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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: FEL;   FHL;   FHLH;   Familial Hemophagocytic Lymphocytosis;   Familial Hemophagocytic Reticuloses;   Familial Hemophagocytic Reticulosis;   Familial Histiocytic Reticuloses;   HPLH;   HPS;   familial erythrophagocytic lymphohistiocytoses;   familial erythrophagocytic lymphohistiocytosis;   familial hemophagocytic histiocytoses;   familial hemophagocytic histiocytosis;   familial hemophagocytic lymphocytoses;   familial histiocytic reticulosis;   haemophagocytic syndrome;   hemophagocytic lymphohistiocytoses;   hemophagocytic syndrome;   hemophagocytic syndromes;   histiocytic medullary reticulosis;   infection-associated hemophagocytic syndrome;   primary hemophagocytic hymphohistiocytosis;   primary hemophagocytic lymphohistiocytosis;   reactive hemophagocytic syndrome
 primary_id: MESH:D051359
 alt_id: RDO:0003049
 xref: GARD:6589;   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 Dclre1c DNA cross-link repair 1C JBrowse link 17 78,782,512 78,812,140 RGD:8554872
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
G Rag1 recombination activating 1 JBrowse link 3 91,206,394 91,217,491 RGD:8554872
G Rag2 recombination activating 2 JBrowse link 3 91,191,837 91,200,134 RGD:8554872
G RGD1309730 similar to RIKEN cDNA B230118H07 JBrowse link 3 91,086,186 91,195,981 RGD:8554872
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 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 14759
    disease of anatomical entity 13978
      immune system disease 2432
        lymphatic system disease 781
          histiocytosis 31
            non-Langerhans-cell histiocytosis 30
              hemophagocytic lymphohistiocytosis 14
                Familial Hemophagocytic Lymphohistiocytoses + 4
                Griscelli syndrome + 3
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      Immune & Inflammatory Diseases 2999
        immune system disease 2432
          lymphatic system disease 781
            histiocytosis 31
              non-Langerhans-cell histiocytosis 30
                hemophagocytic lymphohistiocytosis 14
                  Familial Hemophagocytic Lymphohistiocytoses + 4
                  Griscelli syndrome + 3
paths to the root