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sea-blue histiocyte syndrome - Ontology Report - Rat Genome Database

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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:exact_synonym: DOID:4423;   NCIT:C85062;   Orphanet:158029;   http://identifiers.org/medgen/19908;   http://identifiers.org/mesh/D012618;   http://identifiers.org/snomedct/37821003;   http://linkedlifedata.com/resource/umls/id/C0036489;   https://omim.org/entry/269600
 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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  experimental factor 458423
    material property 82794
      disposition 70630
        disease 70547
          syndromic disease 1501
            syndromic dyslipidemia 0
              sea-blue histiocyte syndrome 0
Path 2
Term Annotations click to browse term
  experimental factor 458423
    material property 82794
      disposition 70630
        disease 70547
          metabolic disease 5801
            inborn errors of metabolism 196
              inherited lipid metabolism disorder 0
                lysosomal lipid storage disorder 0
                  sphingolipidosis 0
                    sea-blue histiocyte syndrome 0
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