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ONTOLOGY REPORT - ANNOTATIONS


Term:hemophagocytic lymphohistiocytosis
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Accession:DOID:0050120 term browser browse the term
Definition:A group of related disorders characterized by LYMPHOCYTOSIS; HISTIOCYTOSIS; and hemophagocytosis. The two major forms are familial and reactive.
Synonyms:exact_synonym: HPLH;   HPS;   haemophagocytic syndrome;   hemophagocytic lymphohistiocytoses;   hemophagocytic syndrome;   hemophagocytic syndromes;   infection-associated hemophagocytic syndrome;   primary hemophagocytic hymphohistiocytosis;   primary hemophagocytic lymphohistiocytosis;   reactive hemophagocytic syndrome
 primary_id: MESH:D051359
 xref: GARD:6589;   ICD10CM:D76.1;   NCI:C34792;   OMIM:PS267700;   ORDO:540
For additional species annotation, visit the Alliance of Genome Resources.


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hemophagocytic lymphohistiocytosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elp1 elongator complex protein 1 JBrowse link 5 73,503,406 73,552,798 RGD:13592920
G Havcr2 hepatitis A virus cellular receptor 2 JBrowse link 10 31,561,838 31,590,624 RGD:11554173
G Il18 interleukin 18 JBrowse link 8 55,009,666 55,016,286 RGD:8655917
G Prf1 perforin 1 JBrowse link 20 30,915,294 30,920,804 RGD:6482810
G Rab27a RAB27A, member RAS oncogene family JBrowse link 8 79,722,334 79,776,228 RGD:13592920
Familial Hemophagocytic Lymphohistiocytoses term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prf1 perforin 1 JBrowse link 20 30,915,294 30,920,804 RGD:8554872
G Stx11 syntaxin 11 JBrowse link 1 7,039,160 7,064,870 RGD:8554872
G Stxbp2 syntaxin binding protein 2 JBrowse link 12 2,180,101 2,191,863 RGD:8554872
G Unc13d unc-13 homolog D JBrowse link 10 104,613,907 104,628,664 RGD:8554872
familial hemophagocytic lymphohistiocytosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lifr LIF receptor subunit alpha JBrowse link 2 56,424,910 56,489,346 RGD:8554872
G Prf1 perforin 1 JBrowse link 20 30,915,294 30,920,804 RGD:6482809
RGD:8554872
RGD:7240710
familial hemophagocytic lymphohistiocytosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Unc13d unc-13 homolog D JBrowse link 10 104,613,907 104,628,664 RGD:1600451
RGD:8554872
RGD:7240710
familial hemophagocytic lymphohistiocytosis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stx11 syntaxin 11 JBrowse link 1 7,039,160 7,064,870 RGD:7240710
RGD:8554872
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
Griscelli syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab27a RAB27A, member RAS oncogene family JBrowse link 8 79,722,334 79,776,228 RGD:8554872
Griscelli syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo5a myosin VA JBrowse link 8 82,038,966 82,156,507 RGD:7240710
RGD:8554872
Griscelli syndrome type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab27a RAB27A, member RAS oncogene family JBrowse link 8 79,722,334 79,776,228 RGD:7240710
RGD:8554872
Griscelli syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mlph melanophilin JBrowse link 9 98,072,965 98,108,429 RGD:7240710
RGD:8554872
G Myo5a myosin VA JBrowse link 8 82,038,966 82,156,507 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15489
    disease of anatomical entity 14790
      immune system disease 2543
        lymphatic system disease 905
          histiocytosis 27
            non-Langerhans-cell histiocytosis 22
              hemophagocytic lymphohistiocytosis 11
                Familial Hemophagocytic Lymphohistiocytoses + 5
                Griscelli syndrome + 3
Path 2
Term Annotations click to browse term
  disease 15489
    disease of anatomical entity 14790
      Immune & Inflammatory Diseases 3125
        immune system disease 2543
          lymphatic system disease 905
            histiocytosis 27
              non-Langerhans-cell histiocytosis 22
                hemophagocytic lymphohistiocytosis 11
                  Familial Hemophagocytic Lymphohistiocytoses + 5
                  Griscelli syndrome + 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.