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ONTOLOGY REPORT - ANNOTATIONS


Term:non-Langerhans-cell histiocytosis
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Accession:DOID:4330 term browser browse the term
Definition:Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; JUVENILE XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES).
Synonyms:exact_synonym: Xanthoma Disseminatum
 primary_id: MESH:D015616;   RDO:0006221
 xref: GARD:8231
For additional species annotation, visit the Alliance of Genome Resources.


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non-Langerhans-cell histiocytosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prf1 perforin 1 JBrowse link 20 30,915,294 30,920,804 RGD:1599929
G Rab27a RAB27A, member RAS oncogene family JBrowse link 8 79,722,334 79,776,228 RGD:1601587
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
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
Niemann-Pick disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase JBrowse link 3 10,041,820 10,145,076 RGD:8693571
G Npc1 NPC intracellular cholesterol transporter 1 JBrowse link 18 3,616,878 3,662,656 RGD:13592920
G Npc2 NPC intracellular cholesterol transporter 2 JBrowse link 6 108,467,410 108,488,330 RGD:1601483
RGD:13592920
G Smpd1 sphingomyelin phosphodiesterase 1 JBrowse link 1 170,383,682 170,387,525 RGD:1601336
RGD:11554173
Niemann-Pick disease type A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 JBrowse link 4 140,247,297 140,580,749 RGD:6482797
G Smpd1 sphingomyelin phosphodiesterase 1 JBrowse link 1 170,383,682 170,387,525 RGD:7240710
RGD:8554872
Niemann-Pick disease type B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gcdh glutaryl-CoA dehydrogenase JBrowse link 19 26,000,497 26,006,970 RGD:8554872
G Smpd1 sphingomyelin phosphodiesterase 1 JBrowse link 1 170,383,682 170,387,525 RGD:7240710
RGD:8554872
Niemann-Pick disease type C1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase JBrowse link 3 10,041,820 10,145,076 RGD:10047095
G Dguok deoxyguanosine kinase JBrowse link 4 115,180,433 115,208,061 RGD:8554872
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
G Jak2 Janus kinase 2 JBrowse link 1 247,398,667 247,457,521 RGD:10403054
G Lipa lipase A, lysosomal acid type JBrowse link 1 252,816,536 252,959,348 RGD:11554173
G Npc1 NPC intracellular cholesterol transporter 1 JBrowse link 18 3,616,878 3,662,656 RGD:7240710
RGD:8554872
RGD:11554173
G Npc2 NPC intracellular cholesterol transporter 2 JBrowse link 6 108,467,410 108,488,330 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Rmc1 regulator of MON1-CCZ1 JBrowse link 18 3,597,210 3,617,160 RGD:8554872
G Spg7 SPG7, paraplegin matrix AAA peptidase subunit JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Stat3 signal transducer and activator of transcription 3 JBrowse link 10 88,790,401 88,842,263 RGD:10403054
Niemann-Pick disease type C2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Npc2 NPC intracellular cholesterol transporter 2 JBrowse link 6 108,467,410 108,488,330 RGD:7240710
RGD:8554872
Niemann-Pick Disease Type D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Npc1 NPC intracellular cholesterol transporter 1 JBrowse link 18 3,616,878 3,662,656 RGD:8554872
Niemann-Pick Disease, Intermediate, Protracted Neurovisceral term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smpd1 sphingomyelin phosphodiesterase 1 JBrowse link 1 170,383,682 170,387,525 RGD:8554872
sea-blue histiocytosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:7240710
RGD:8554872
RGD:11554173
Sinus Histiocytosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc29a3 solute carrier family 29 member 3 JBrowse link 20 30,289,527 30,327,343 RGD:11554173

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
              Erdheim-Chester disease 0
              Niemann-Pick disease + 14
              Sinus Histiocytosis + 1
              adult xanthogranuloma 0
              hemophagocytic lymphohistiocytosis + 14
              juvenile xanthogranuloma 0
              multicentric reticulohistiocytosis 0
              reticulohistiocytic granuloma 0
              sea-blue histiocytosis 1
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
                Erdheim-Chester disease 0
                Niemann-Pick disease + 14
                Sinus Histiocytosis + 1
                adult xanthogranuloma 0
                hemophagocytic lymphohistiocytosis + 14
                juvenile xanthogranuloma 0
                multicentric reticulohistiocytosis 0
                reticulohistiocytic granuloma 0
                sea-blue histiocytosis 1
paths to the root