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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 chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023 		JBrowse link
G ELP1 elongator acetyltransferase complex subunit 1 ISO MouseDO NCBI chr 9:80,020,131...80,085,076
Ensembl chr 9:108,194,011...108,258,500 		JBrowse link
G HAVCR2 hepatitis A virus cellular receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374066 NCBI chr 5:152,486,125...152,514,004
Ensembl chr 5:159,108,915...159,131,007 		JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 ISO RGD PMID:26914138 RGD:11529541 NCBI chr 8:39,108,310...39,123,611
Ensembl chr 8:36,617,312...36,632,352 		JBrowse link
G IL18 interleukin 18 ISO associated with Epstein-Barr Virus Infections;protein:increased expression:serum RGD PMID:20472718 RGD:8655917 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371 		JBrowse link
G PRF1 perforin 1 ISO associated with Lymphocytic Choriomeningitis RGD PMID:20049711 RGD:6482810 NCBI chr10:67,071,141...67,078,057
Ensembl chr10:69,597,574...69,603,070 		JBrowse link
G RAB27A RAB27A, member RAS oncogene family ISO MouseDO NCBI chr15:34,174,491...34,263,045
Ensembl chr15:52,498,202...52,529,984 		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 chr  X:125,270,340...125,334,961
Ensembl chr  X:135,559,321...135,602,375 		JBrowse link
G PRF1 perforin 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis | ClinVar Annotator: match by term: Familial histiocytic reticulosis | ClinVar Annotator: match by term: RETICULOSIS, FAMILIAL HISTIOCYTIC ClinVar PMID:1156555 PMID:10583959 PMID:11179007 PMID:11565555 PMID:11756153 More... NCBI chr10:67,071,141...67,078,057
Ensembl chr10:69,597,574...69,603,070 		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 chr 6:141,924,656...141,974,579
Ensembl chr 6:146,688,670...146,689,533 		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 chr19:6,926,833...6,937,385
Ensembl chr19:7,781,830...7,792,038 		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 chr17:69,777,570...69,794,877
Ensembl chr17:75,328,572...75,344,842 		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 chr10:66,879,744...66,903,027
Ensembl chr10:69,406,745...69,423,249 		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
G IL33 interleukin 33 ISO associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen: RGD PMID:26518437 RGD:11343232 NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624 		JBrowse link
G NODAL nodal growth differentiation factor ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:28492532 NCBI chr10:66,906,866...66,916,938
Ensembl chr10:69,433,959...69,443,972 		JBrowse link
G PALD1 phosphatase domain containing paladin 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:28492532 NCBI chr10:66,951,864...67,042,769
Ensembl chr10:69,478,636...69,569,130 		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 chr10:67,071,141...67,078,057
Ensembl chr10:69,597,574...69,603,070 		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 chr17:69,777,570...69,794,877
Ensembl chr17:75,328,572...75,344,842 		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 chr 6:141,271,678...141,288,241
Ensembl chr 6:145,992,631...146,009,163 		JBrowse link
G LTV1 LTV1 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 6:141,618,967...141,639,525
Ensembl chr 6:146,340,044...146,359,171 		JBrowse link
G PEX3 peroxisomal biogenesis factor 3 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 6:141,226,738...141,266,233
Ensembl chr 6:145,947,954...145,987,188 		JBrowse link
G PHACTR2 phosphatase and actin regulator 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 6:141,312,850...141,602,868
Ensembl chr 6:146,174,399...146,323,625 		JBrowse link
G PLAGL1 PLAG1 like zinc finger 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 6:141,715,599...141,841,862
Ensembl chr 6:146,435,622...146,480,224 		JBrowse link
G SF3B5 splicing factor 3b subunit 5 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 6:141,873,848...141,874,584
Ensembl chr 6:146,594,201...146,594,461 		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 chr 6:141,924,656...141,974,579
Ensembl chr 6:146,688,670...146,689,533 		JBrowse link
G ZC2HC1B zinc finger C2HC-type containing 1B ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 6:141,640,149...141,713,802
Ensembl chr 6:146,360,081...146,433,469 		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 chr19:6,885,979...6,908,067
Ensembl chr19:7,749,945...7,763,056 		JBrowse link
G CCL25 C-C motif chemokine ligand 25 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,307,109...7,363,983
Ensembl chr19:8,208,273...8,217,780 		JBrowse link
G CD209 CD209 molecule ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,042,033...7,047,350 JBrowse link
G CD320 CD320 molecule ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,587,760...7,594,055
Ensembl chr19:8,438,955...8,445,464 		JBrowse link
G CERS4 ceramide synthase 4 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,509,213...7,562,394
Ensembl chr19:8,364,569...8,415,345 		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 chr19:7,015,848...7,019,396
Ensembl chr19:7,870,730...7,873,631 		JBrowse link
G CTXN1 cortexin 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,225,738...7,227,412
Ensembl chr19:8,079,181...8,079,429 		JBrowse link
G ELAVL1 ELAV like RNA binding protein 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,259,829...7,306,808
Ensembl chr19:8,114,849...8,147,137 		JBrowse link
G EVI5L ecotropic viral integration site 5 like ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,132,274...7,167,051
Ensembl chr19:7,985,803...8,018,455 		JBrowse link
G FBN3 fibrillin 3 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,366,530...7,450,545
Ensembl chr19:8,222,701...8,305,586 		JBrowse link
G FCER2 Fc epsilon receptor II ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:6,978,116...6,989,986
Ensembl chr19:7,834,106...7,844,924 		JBrowse link
G LOC100978434 C-type lectin domain family 4 member M ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,062,961...7,069,381 JBrowse link
G LOC100983712 protein PET100 homolog, mitochondrial ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:19804848 PMID:22451424 PMID:28492532 NCBI chr19:6,919,469...6,921,359 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 chr19:7,189,490...7,203,310
Ensembl chr19:8,041,185...8,055,684 		JBrowse link
G MAP2K7 mitogen-activated protein kinase kinase 7 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,205,124...7,215,776
Ensembl chr19:8,057,598...8,066,512 		JBrowse link
G MCEMP1 mast cell expressed membrane protein 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:6,966,022...6,969,354
Ensembl chr19:7,821,177...7,827,590 		JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:6,813,498...6,825,153
Ensembl chr19:7,671,704...7,683,093 		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 chr19:6,921,350...6,923,618
Ensembl chr19:7,776,331...7,779,241 		JBrowse link
G PNPLA6 patatin like domain 6, lysophospholipase ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:6,825,299...6,852,900
Ensembl chr19:7,683,789...7,710,241 		JBrowse link
G RETN resistin ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:6,958,536...6,960,032
Ensembl chr19:7,812,942...7,814,909 		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 chr19:7,221,613...7,224,501
Ensembl chr19:8,074,290...8,076,662 		JBrowse link
G STX11 syntaxin 11 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:15703195 NCBI chr 6:141,924,656...141,974,579
Ensembl chr 6:146,688,670...146,689,533 		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 chr19:6,926,833...6,937,385
Ensembl chr19:7,781,830...7,792,038 		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 chr19:7,216,766...7,220,394
Ensembl chr19:8,070,344...8,072,052 		JBrowse link
G TIMM44 translocase of inner mitochondrial membrane 44 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,227,965...7,245,045
Ensembl chr19:8,081,069...8,100,479 		JBrowse link
G TRAPPC5 trafficking protein particle complex subunit 5 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:6,970,318...6,972,378 JBrowse link
G XAB2 XPA binding protein 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:6,909,281...6,919,332
Ensembl chr19:7,764,264...7,774,305 		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 chr 1:149,454,748...149,539,566
Ensembl chr 1:153,160,661...153,213,402 		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 chr15:34,174,491...34,263,045
Ensembl chr15:52,498,202...52,529,984 		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 chr15:31,246,192...31,470,040
Ensembl chr15:49,578,491...49,704,319 		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 chr15:34,324,670...34,382,141
Ensembl chr15:52,647,392...52,701,880 		JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr15:34,382,064...34,469,432
Ensembl chr15:52,711,349...52,791,281 		JBrowse link
G PIERCE2 piercer of microtubule wall 2 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr15:34,379,792...34,390,023
Ensembl chr15:52,702,057...52,712,290 		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 chr15:34,288,600...34,325,079
Ensembl chr15:52,611,474...52,647,797 		JBrowse link
G RAB27A RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 | ClinVar Annotator: match by term: PAID SYNDROME | ClinVar Annotator: match by term: PARTIAL ALBINISM AND IMMUNODEFICIENCY SYNDROME OMIM
ClinVar		 PMID:8319705 PMID:9536098 PMID:10835631 PMID:12058346 PMID:12148598 More... NCBI chr15:34,174,491...34,263,045
Ensembl chr15:52,498,202...52,529,984 		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 chr2B:124,716,573...124,781,829
Ensembl chr2B:243,569,782...243,633,177 		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 chr15:31,246,192...31,470,040
Ensembl chr15:49,578,491...49,704,319 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15835
    disease of anatomical entity 15491
      immune system disease 4702
        lymphatic system disease 1677
          histiocytosis 91
            non-Langerhans-cell histiocytosis 83
              hemophagocytic lymphohistiocytosis 55
                Familial Hemophagocytic Lymphohistiocytoses + 43
                Griscelli syndrome + 7
Path 2
Term Annotations click to browse term
  disease 15835
    disease of anatomical entity 15491
      Immune & Inflammatory Diseases 5237
        immune system disease 4702
          lymphatic system disease 1677
            histiocytosis 91
              non-Langerhans-cell histiocytosis 83
                hemophagocytic lymphohistiocytosis 55
                  Familial Hemophagocytic Lymphohistiocytoses + 43
                  Griscelli syndrome + 7
paths to the root