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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:sea-blue histiocyte syndrome
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Accession:EFO:MONDO:0010017 term browser browse the term
Definition: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.
Synonyms:related_synonym: SEA-blue histiocyte disease;   inherited Lipemic splenomegaly;   sea-blue histiocytosis
 alt_id: MONDO:0010017
 xref: DOID:4423;   GARD:8241;   MEDGEN:19908;   MESH:D012618;   MIM:269600;   NCI:C85062;   ORDO:158029;   SCTID:37821003;   UMLS:C0036489


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Term Annotations click to browse term
  experimental factor 512868
    material property 101355
      disposition 85928
        disease 85908
          syndromic disease 1514
            syndromic dyslipidemia 0
              sea-blue histiocyte syndrome 0
Path 2
Term Annotations click to browse term
  experimental factor 512868
    material property 101355
      disposition 85928
        disease 85908
          metabolic disease 7662
            inborn errors of metabolism 465
              inherited lipid metabolism disorder 231
                lysosomal lipid storage disorder 3
                  sphingolipidosis 3
                    sea-blue histiocyte syndrome 0
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