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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:hemophagocytic lymphohistiocytosis
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Accession:DOID:0050120 term browser browse the term
Definition:A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages. (DO)
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;   MIM:PS267700;   NCI:C34792;   ORDO:540

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hemophagocytic lymphohistiocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd163 CD163 molecule ISO protein:increased expression:blood serum (human) RGD PMID:15613100 RGD:127285796 NCBI chrNW_004624860:3,976,746...4,000,349
Ensembl chrNW_004624860:3,975,747...4,000,349 		JBrowse link
G Elp1 elongator acetyltransferase complex subunit 1 ISO MouseDO NCBI chrNW_004624758:2,575,516...2,646,313
Ensembl chrNW_004624758:2,575,671...2,646,313 		JBrowse link
G Havcr2 hepatitis A virus cellular receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374066 NCBI chrNW_004624733:32,521,318...32,527,499 JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 ISO RGD PMID:26914138 RGD:11529541 NCBI chrNW_004624780:3,684,941...3,697,506
Ensembl chrNW_004624780:3,685,069...3,697,474 		JBrowse link
G Il18 interleukin 18 ISO associated with Epstein-Barr Virus Infections;protein:increased expression:serum RGD PMID:20472718 RGD:8655917 NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687 		JBrowse link
G Prf1 perforin 1 ISO associated with Lymphocytic Choriomeningitis RGD PMID:20049711 RGD:6482810 NCBI chrNW_004624754:4,679,451...4,681,627
Ensembl chrNW_004624754:4,679,521...4,681,627 		JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO MouseDO NCBI chrNW_004624731:6,315,064...6,355,431
Ensembl chrNW_004624731:6,319,092...6,355,534 		JBrowse link
Familial Hemophagocytic Lymphohistiocytoses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: RETICULOSIS, FAMILIAL HISTIOCYTIC ClinVar PMID:18179888 PMID:19377476 PMID:19687455 PMID:19716112 PMID:22523091 More... NCBI chrNW_004624808:10,924,606...10,984,422
Ensembl chrNW_004624808:10,924,248...10,965,164 		JBrowse link
G Prf1 perforin 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis | ClinVar Annotator: match by term: Familial histiocytic reticulosis ClinVar PMID:1156555 PMID:10583959 PMID:11179007 PMID:11565555 PMID:11756153 More... NCBI chrNW_004624754:4,679,451...4,681,627
Ensembl chrNW_004624754:4,679,521...4,681,627 		JBrowse link
G Stx11 syntaxin 11 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis ClinVar PMID:20486178 PMID:24033266 PMID:24459464 PMID:25741868 PMID:26004995 More... NCBI chrNW_004624753:10,150,811...10,180,794
Ensembl chrNW_004624753:10,148,416...10,191,153 		JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis | ClinVar Annotator: match by term: Familial histiocytic reticulosis ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19804848 PMID:19884660 More... NCBI chrNW_004624828:718,728...725,063
Ensembl chrNW_004624828:718,485...725,483 		JBrowse link
G Unc13d unc-13 homolog D ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis | ClinVar Annotator: match by term: Familial histiocytic reticulosis ClinVar PMID:9536098 PMID:14622600 PMID:16278825 PMID:16778144 PMID:16825436 More... NCBI chrNW_004624801:5,720,998...5,736,122
Ensembl chrNW_004624801:5,721,391...5,736,294 		JBrowse link
familial hemophagocytic lymphohistiocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif4ebp2 eukaryotic translation initiation factor 4E binding protein 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:28492532 NCBI chrNW_004624754:4,523,616...4,553,994
Ensembl chrNW_004624754:4,523,661...4,549,936 		JBrowse link
G Il1rl1 interleukin 1 receptor like 1 treatment ISO associated with lymphocytic choriomeningitis
associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen, liver:		 RGD PMID:26518437 RGD:11343232 NCBI chrNW_004624749:6,795,822...6,873,068
Ensembl chrNW_004624749:6,795,748...6,873,701 		JBrowse link
G Il33 interleukin 33 ISO associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen: RGD PMID:26518437 RGD:11343232 NCBI chrNW_004624736:10,733,944...10,786,188
Ensembl chrNW_004624736:10,764,486...10,784,864 		JBrowse link
G Nodal nodal growth differentiation factor ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:28492532 NCBI chrNW_004624754:4,557,407...4,564,580
Ensembl chrNW_004624754:4,557,952...4,564,644 		JBrowse link
G Pald1 phosphatase domain containing paladin 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:28492532 NCBI chrNW_004624754:4,591,504...4,661,195
Ensembl chrNW_004624754:4,605,913...4,661,299 		JBrowse link
G Prf1 perforin 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 | ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to OMIM
ClinVar		 PMID:1156555 PMID:7851014 PMID:9536098 PMID:10583959 PMID:11179007 More... NCBI chrNW_004624754:4,679,451...4,681,627
Ensembl chrNW_004624754:4,679,521...4,681,627 		JBrowse link
familial hemophagocytic lymphohistiocytosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc13d unc-13 homolog D susceptibility ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 3 | ClinVar Annotator: match by term: UNC13D-related condition
DNA:deletions, insertion, snps:exons, intron:multiple (human)		 OMIM
ClinVar
RGD		 PMID:2978935 PMID:9536098 PMID:10459864 PMID:14622600 PMID:15466010 More... RGD:1600451 NCBI chrNW_004624801:5,720,998...5,736,122
Ensembl chrNW_004624801:5,721,391...5,736,294 		JBrowse link
familial hemophagocytic lymphohistiocytosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fuca2 alpha-L-fucosidase 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chrNW_004624753:10,767,093...10,782,963
Ensembl chrNW_004624753:10,767,162...10,783,669 		JBrowse link
G Ltv1 LTV1 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chrNW_004624753:10,428,383...10,444,913 JBrowse link
G Pex3 peroxisomal biogenesis factor 3 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chrNW_004624753:10,787,513...10,826,099
Ensembl chrNW_004624753:10,786,599...10,826,255 		JBrowse link
G Phactr2 phosphatase and actin regulator 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chrNW_004624753:10,456,910...10,742,311 JBrowse link
G Plagl1 PLAG1 like zinc finger 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chrNW_004624753:10,292,050...10,359,424
Ensembl chrNW_004624753:10,292,038...10,359,480 		JBrowse link
G Sf3b5 splicing factor 3b subunit 5 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chrNW_004624753:10,227,419...10,228,106
Ensembl chrNW_004624753:10,227,560...10,227,820 		JBrowse link
G Stx11 syntaxin 11 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 | ClinVar Annotator: match by term: STX11-related condition OMIM
ClinVar		 PMID:15703195 PMID:16582076 PMID:17525286 PMID:19967551 PMID:20486178 More... NCBI chrNW_004624753:10,150,811...10,180,794
Ensembl chrNW_004624753:10,148,416...10,191,153 		JBrowse link
G Zc2hc1b zinc finger C2HC-type containing 1B ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chrNW_004624753:10,363,904...10,428,199
Ensembl chrNW_004624753:10,364,724...10,419,837 		JBrowse link
familial hemophagocytic lymphohistiocytosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camsap3 calmodulin regulated spectrin associated protein family member 3 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:689,010...703,496
Ensembl chrNW_004624828:688,564...704,174 		JBrowse link
G Ccl25 C-C motif chemokine ligand 25 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:975,656...981,610 JBrowse link
G Cd320 CD320 molecule ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:1,102,016...1,106,314
Ensembl chrNW_004624828:1,102,306...1,106,211 		JBrowse link
G Cers4 ceramide synthase 4 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:1,074,920...1,092,607
Ensembl chrNW_004624828:1,074,942...1,092,647 		JBrowse link
G Clec4g C-type lectin domain family 4 member G ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:775,114...778,526
Ensembl chrNW_004624828:773,569...778,615 		JBrowse link
G Ctxn1 cortexin 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:887,006...888,524
Ensembl chrNW_004624828:887,005...888,430 		JBrowse link
G Elavl1 ELAV like RNA binding protein 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:913,001...948,826
Ensembl chrNW_004624828:914,141...948,831 		JBrowse link
G Evi5l ecotropic viral integration site 5 like ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:821,719...847,953
Ensembl chrNW_004624828:828,381...847,975 		JBrowse link
G Fbn3 fibrillin 3 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:982,424...1,043,157 JBrowse link
G Fcer2 Fc fragment of IgE receptor II ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:747,800...754,185
Ensembl chrNW_004624828:748,671...754,185 		JBrowse link
G Lrrc8e leucine rich repeat containing 8 VRAC subunit E ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:859,419...868,595
Ensembl chrNW_004624828:860,744...868,595 		JBrowse link
G Map2k7 mitogen-activated protein kinase kinase 7 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:869,424...878,358
Ensembl chrNW_004624828:869,425...878,231 		JBrowse link
G Mcemp1 mast cell expressed membrane protein 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:740,146...742,922 JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:634,318...643,406
Ensembl chrNW_004624828:634,214...643,633 		JBrowse link
G Pcp2 Purkinje cell protein 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:19804848 PMID:22451424 PMID:28492532 NCBI chrNW_004624828:713,796...719,287
Ensembl chrNW_004624828:713,799...715,442 		JBrowse link
G Pet100 PET100 homolog ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:19804848 PMID:22451424 PMID:28492532 NCBI chrNW_004624828:712,087...713,801
Ensembl chrNW_004624828:712,171...713,801 		JBrowse link
G Pnpla6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:643,552...664,665
Ensembl chrNW_004624828:643,471...664,665 		JBrowse link
G Retn resistin ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:735,562...737,166
Ensembl chrNW_004624828:735,503...737,166 		JBrowse link
G Snapc2 small nuclear RNA activating complex polypeptide 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:882,370...885,866
Ensembl chrNW_004624828:883,194...885,408 		JBrowse link
G Stx11 syntaxin 11 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:15703195 NCBI chrNW_004624753:10,150,811...10,180,794
Ensembl chrNW_004624753:10,148,416...10,191,153 		JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 | ClinVar Annotator: match by term: STXBP2-related condition OMIM
ClinVar		 PMID:9536098 PMID:10788461 PMID:16199547 PMID:17576681 PMID:19804848 More... NCBI chrNW_004624828:718,728...725,063
Ensembl chrNW_004624828:718,485...725,483 		JBrowse link
G Tgfbr3l transforming growth factor beta receptor 3 like ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:878,551...882,179
Ensembl chrNW_004624828:878,741...881,510 		JBrowse link
G Timm44 translocase of inner mitochondrial membrane 44 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:888,999...903,496
Ensembl chrNW_004624828:888,606...902,927 		JBrowse link
G Trappc5 trafficking protein particle complex subunit 5 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:743,324...744,990
Ensembl chrNW_004624828:743,350...744,986 		JBrowse link
G Xab2 XPA binding protein 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:704,400...711,963
Ensembl chrNW_004624828:704,300...712,251 		JBrowse link
Familial Hemophagocytic Lymphohistiocytosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rc3h1 ring finger and CCCH-type domains 1 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 6 OMIM
ClinVar		 PMID:25741868 NCBI chrNW_004624771:7,837,547...7,948,217 JBrowse link
Griscelli syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli syndrome ClinVar PMID:10835631 PMID:12148598 PMID:16551969 PMID:18350256 PMID:19953648 More... NCBI chrNW_004624731:6,315,064...6,355,431
Ensembl chrNW_004624731:6,319,092...6,355,534 		JBrowse link
Griscelli syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo5a myosin VA ISO ClinVar Annotator: match by term: Griscelli syndrome type 1 | ClinVar Annotator: match by term: MYO5A-related condition OMIM
ClinVar		 PMID:9207796 PMID:9536098 PMID:10704277 PMID:12058346 PMID:17576681 More... NCBI chrNW_004624731:8,114,557...8,280,586
Ensembl chrNW_004624731:8,113,715...8,280,823 		JBrowse link
Griscelli syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccpg1 cell cycle progression 1 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chrNW_004624731:6,260,560...6,286,432
Ensembl chrNW_004624731:6,257,130...6,288,880 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chrNW_004624731:6,215,798...6,270,210
Ensembl chrNW_004624731:6,215,737...6,241,793 		JBrowse link
G Pierce2 piercer of microtubule wall 2 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chrNW_004624853:138,153...139,077 JBrowse link
G Pigb phosphatidylinositol glycan anchor biosynthesis class B ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:10835631 PMID:23160464 PMID:28492532 NCBI chrNW_004624731:6,286,406...6,306,070
Ensembl chrNW_004624731:6,283,848...6,305,855 		JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 | ClinVar Annotator: match by term: Partial albinism and immunodeficiency syndrome OMIM
ClinVar		 PMID:8319705 PMID:9536098 PMID:10835631 PMID:12058346 PMID:12148598 More... NCBI chrNW_004624731:6,315,064...6,355,431
Ensembl chrNW_004624731:6,319,092...6,355,534 		JBrowse link
Griscelli syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mlph melanophilin ISO ClinVar Annotator: match by term: Griscelli syndrome type 3 | ClinVar Annotator: match by term: MLPH-related condition OMIM
ClinVar		 PMID:12148598 PMID:12897212 PMID:21883982 PMID:22711375 PMID:25741868 More... NCBI chrNW_004624847:2,919,391...2,958,459
Ensembl chrNW_004624847:2,919,404...2,958,554 		JBrowse link
G Myo5a myosin VA ISO ClinVar Annotator: match by term: Griscelli syndrome type 3 ClinVar PMID:12148598 PMID:12897212 PMID:22711375 PMID:25283056 NCBI chrNW_004624731:8,114,557...8,280,586
Ensembl chrNW_004624731:8,113,715...8,280,823 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14215
    disease of anatomical entity 13931
      immune system disease 4249
        lymphatic system disease 1569
          histiocytosis 87
            non-Langerhans-cell histiocytosis 79
              hemophagocytic lymphohistiocytosis 53
                Familial Hemophagocytic Lymphohistiocytoses + 41
                Griscelli syndrome + 7
Path 2
Term Annotations click to browse term
  disease 14215
    disease of anatomical entity 13931
      Immune & Inflammatory Diseases 4784
        immune system disease 4249
          lymphatic system disease 1569
            histiocytosis 87
              non-Langerhans-cell histiocytosis 79
                hemophagocytic lymphohistiocytosis 53
                  Familial Hemophagocytic Lymphohistiocytoses + 41
                  Griscelli syndrome + 7
paths to the root