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ONTOLOGY REPORT - ANNOTATIONS


Term:familial hemophagocytic lymphohistiocytosis 5
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Accession:DOID:0110925 term browser browse the term
Definition:A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of STXBP2 on chromosome 19p13.2. (DO)
Synonyms:exact_synonym: FHL5;   HLH5;   HPLH5
 primary_id: MESH:C567752
 alt_id: OMIM:613101;   RDO:0012026
For additional species annotation, visit the Alliance of Genome Resources.


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familial hemophagocytic lymphohistiocytosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stxbp2 syntaxin binding protein 2 JBrowse link 12 2,180,101 2,191,863 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15626
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          monogenic disease 4659
            familial hemophagocytic lymphohistiocytosis 5 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      Immune & Inflammatory Diseases 3100
        immune system disease 2521
          lymphatic system disease 874
            histiocytosis 27
              non-Langerhans-cell histiocytosis 26
                hemophagocytic lymphohistiocytosis 15
                  Familial Hemophagocytic Lymphohistiocytoses 5
                    familial hemophagocytic lymphohistiocytosis 5 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.