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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 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.

show annotations for term's descendants           Sort by:
 
hemophagocytic lymphohistiocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp1 elongator acetyltransferase complex subunit 1 ISS MouseDO NCBI chr 5:73,503,406...73,552,798
Ensembl chr 5:73,503,407...73,552,798 		JBrowse link
G Havcr2 hepatitis A virus cellular receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374066 NCBI chr10:31,561,838...31,590,624
Ensembl chr10:31,561,895...31,588,943 		JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 ISO RGD PMID:26914138 RGD:11529541 NCBI chr16:72,216,326...72,228,098
Ensembl chr16:72,216,326...72,228,098 		JBrowse link
G Il18 interleukin 18 ISO associated with Epstein-Barr Virus Infections;protein:increased expression:serum RGD PMID:20472718 RGD:8655917 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299 		JBrowse link
G Prf1 perforin 1 ISO associated with Lymphocytic Choriomeningitis RGD PMID:20049711 RGD:6482810 NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382 		JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISS MouseDO NCBI chr 8:79,722,334...79,776,228
Ensembl chr 8:79,722,334...79,776,221 		JBrowse link
Familial Hemophagocytic Lymphohistiocytoses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prf1 perforin 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis ClinVar PMID:10583959 PMID:11179007 PMID:14757862 PMID:15755897 PMID:16374518 PMID:16860143 PMID:17266056 PMID:17873118 PMID:18190960 PMID:18710388 PMID:19487666 PMID:22437823 PMID:23255033 PMID:23264592 PMID:23592409 PMID:24033266 PMID:24744671 PMID:24916509 PMID:25741868 PMID:26184781 PMID:28492532 PMID:29665027 PMID:31395954 NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382 		JBrowse link
G Stx11 syntaxin 11 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis ClinVar PMID:20486178 PMID:24033266 PMID:28492532 NCBI chr 1:7,039,160...7,064,870
Ensembl chr 1:7,039,162...7,064,870 		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:19804848 PMID:19884660 PMID:20558610 PMID:20823128 PMID:22451424 PMID:23687090 PMID:24033266 PMID:25741868 PMID:27577878 PMID:28492532 NCBI chr12:2,180,101...2,191,863
Ensembl chr12:2,180,150...2,191,175 		JBrowse link
G Unc13d unc-13 homolog D ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis ClinVar PMID:25741868 NCBI chr10:104,613,907...104,628,664
Ensembl chr10:104,613,928...104,628,676 		JBrowse link
familial hemophagocytic lymphohistiocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1rl1 interleukin 1 receptor-like 1 treatment ISO associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen, liver: RGD PMID:26518437, PMID:26518437 RGD:11343232, RGD:11343232 NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170 		JBrowse link
G Il33 interleukin 33 ISO associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen: RGD PMID:26518437 RGD:11343232 NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029 		JBrowse link
G Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:14740318 PMID:28492532 NCBI chr 2:56,424,910...56,489,346
Ensembl chr 2:56,426,367...56,489,415 		JBrowse link
G Prf1 perforin 1 ISO DNA:missense mutations, nonsense mutations: :multiple
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2
ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 2
ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to
ClinVar Annotator: match by OMIM:603553		 ClinVar
OMIM		 PMID:7851014 PMID:10583959 PMID:11179007 PMID:11565555 PMID:11756153 PMID:11841437 PMID:12060139 PMID:12229880 PMID:12599189 PMID:12716377 PMID:14739222 PMID:14757862 PMID:15077010 PMID:15205266 PMID:15342365 PMID:15365097 PMID:15459303 PMID:15609274 PMID:15632205 PMID:15659737 PMID:15728124 PMID:15755277 PMID:15755897 PMID:15924140 PMID:16278825 PMID:16374518 PMID:16720836 PMID:16860143 PMID:17266056 PMID:17311987 PMID:17475905 PMID:17477373 PMID:17525286 PMID:17674359 PMID:17873118 PMID:18074390 PMID:18190960 PMID:18496551 PMID:18710388 PMID:19487666 PMID:19595804 PMID:20092789 PMID:20638125 PMID:21152410 PMID:21157294 PMID:21234777 PMID:21674762 PMID:21881043 PMID:21931115 PMID:21959744 PMID:22437823 PMID:22970278 PMID:23073044 PMID:23255033 PMID:23264592 PMID:23287865 PMID:23443029 PMID:23592409 PMID:24033266 PMID:24215106 PMID:24309606 PMID:24744671 PMID:24916509 PMID:25215106 PMID:25233452 PMID:25297583 PMID:25312756 PMID:25326635 PMID:25326637 PMID:25354579 PMID:25741868 PMID:25742477 PMID:25845254 PMID:25937001 PMID:26184781 PMID:26221353 PMID:26342526 PMID:26450956 PMID:26684649 PMID:26903364 PMID:27271812 PMID:27290639 PMID:27391055 PMID:27535533 PMID:28353193 PMID:28492532 PMID:29113160 PMID:29357941 PMID:29665027 PMID:30697212 PMID:31395954 PMID:32963807, PMID:12060139 RGD:6482809 NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382 		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 DNA:deletions, insertion, snps:exons, intron:multiple (human)
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 3
ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3		 ClinVar
OMIM		 PMID:10459864 PMID:14622600 PMID:16278825 PMID:16825436 PMID:17993578 PMID:18240215 PMID:18492689 PMID:18759271 PMID:19484379 PMID:19704116 PMID:20823128 PMID:21094958 PMID:21152410 PMID:21248318 PMID:21600143 PMID:21653941 PMID:21674762 PMID:21755595 PMID:21881043 PMID:21931115 PMID:23180437 PMID:23560006 PMID:23669735 PMID:23840885 PMID:24033266 PMID:24139496 PMID:24309606 PMID:24459464 PMID:24470399 PMID:24825797 PMID:24842371 PMID:24916509 PMID:24935083 PMID:25502423 PMID:25553300 PMID:25573973 PMID:25741868 PMID:25901543 PMID:26342526 PMID:26764160 PMID:27123661 PMID:27164702 PMID:27209435 PMID:27896523 PMID:28399723 PMID:28492532 PMID:28848550 PMID:29113160 PMID:29665027, PMID:14622600 RGD:1600451 NCBI chr10:104,613,907...104,628,664
Ensembl chr10:104,613,928...104,628,676 		JBrowse link
familial hemophagocytic lymphohistiocytosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stx11 syntaxin 11 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4
ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 4
ClinVar Annotator: match by OMIM:603552		 OMIM
ClinVar		 PMID:15703195 PMID:16582076 PMID:20486178 PMID:24033266 PMID:24459464 PMID:24524345 PMID:24916509 PMID:25741868 PMID:26176172 PMID:28492532 PMID:28750028 PMID:29113160 NCBI chr 1:7,039,160...7,064,870
Ensembl chr 1:7,039,162...7,064,870 		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: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,133,935...2,157,403
Ensembl chr12:2,134,022...2,157,403 		JBrowse link
G Ccl25 C-C motif chemokine ligand 25 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,429,492...2,438,928
Ensembl chr12:2,429,509...2,438,817 		JBrowse link
G Cd209 CD209 molecule ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324 		JBrowse link
G Cd320 CD320 molecule ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr 7:18,700,445...18,706,244
Ensembl chr 7:18,700,344...18,706,244 		JBrowse link
G Cers4 ceramide synthase 4 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:4,439,750...4,474,759
Ensembl chr12:4,439,750...4,474,729 		JBrowse link
G Clec4g C-type lectin domain family 4, member G ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,273,649...2,278,594
Ensembl chr12:2,273,941...2,277,169 		JBrowse link
G Clec4m C-type lectin domain family 4 member M ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,817,633...2,826,303
Ensembl chr12:2,816,065...2,826,378 		JBrowse link
G Ctxn1 cortexin 1 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,534,212...2,535,823
Ensembl chr12:2,534,212...2,535,822 		JBrowse link
G Elavl1 ELAV like RNA binding protein 1 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,461,502...2,502,432
Ensembl chr12:2,461,502...2,502,432 		JBrowse link
G Evi5l ecotropic viral integration site 5-like ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,588,066...2,626,336
Ensembl chr12:2,587,891...2,626,310 		JBrowse link
G Fcer2 Fc fragment of IgE receptor II ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,233,772...2,245,324
Ensembl chr12:2,233,778...2,245,324 		JBrowse link
G Lrrc8e leucine rich repeat containing 8 VRAC subunit E ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,557,267...2,568,416
Ensembl chr12:2,557,275...2,568,382 		JBrowse link
G Map2k7 mitogen activated protein kinase kinase 7 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,546,278...2,555,310
Ensembl chr12:2,548,218...2,555,164 		JBrowse link
G Mcemp1 mast cell-expressed membrane protein 1 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,211,970...2,217,005
Ensembl chr12:2,213,471...2,217,433 		JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,054,629...2,068,682
Ensembl chr12:2,054,680...2,068,682 		JBrowse link
G Pcp2 Purkinje cell protein 2 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,172,378...2,174,674
Ensembl chr12:2,172,378...2,174,131 		JBrowse link
G Pet100 PET100 cytochrome c oxidase chaperone ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,170,630...2,173,259
Ensembl chr12:2,170,630...2,173,251 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904 		JBrowse link
G Retn resistin ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,201,909...2,203,649
Ensembl chr12:2,201,891...2,204,249 		JBrowse link
G Snapc2 small nuclear RNA activating complex, polypeptide 2 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,537,291...2,540,774
Ensembl chr12:2,537,275...2,540,668 		JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5
ClinVar Annotator: match by OMIM:613101
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis		 OMIM
ClinVar		 PMID:19804848 PMID:19884660 PMID:20558610 PMID:20798128 PMID:20823128 PMID:21881043 PMID:22336081 PMID:22451424 PMID:22791290 PMID:23382066 PMID:23687090 PMID:24033266 PMID:24194549 PMID:24916509 PMID:25564401 PMID:25741868 PMID:26451869 PMID:27209435 PMID:27379089 PMID:27577878 PMID:27781387 PMID:28353193 PMID:28380445 PMID:28399723 PMID:28492532 PMID:29599780 PMID:30899265 NCBI chr12:2,180,101...2,191,863
Ensembl chr12:2,180,150...2,191,175 		JBrowse link
G Tgfbr3l transforming growth factor beta receptor 3 like ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,540,494...2,545,315
Ensembl chr12:2,542,612...2,545,740 		JBrowse link
G Timm44 translocase of inner mitochondrial membrane 44 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,517,006...2,533,707
Ensembl chr12:2,517,006...2,533,706 		JBrowse link
G Trappc5 trafficking protein particle complex subunit 5 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,228,670...2,232,973
Ensembl chr12:2,228,670...2,232,214 		JBrowse link
G Xab2 XPA binding protein 2 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,158,391...2,170,397
Ensembl chr12:2,158,389...2,170,504 		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		 NCBI chr13:78,723,028...78,794,663
Ensembl chr13:78,722,763...78,789,266 		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 disease ClinVar PMID:10835631 PMID:16551969 PMID:18350256 PMID:19953648 PMID:24033266 PMID:26684649 NCBI chr 8:79,722,334...79,776,228
Ensembl chr 8:79,722,334...79,776,221 		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 OMIM:214450		 OMIM
ClinVar		 PMID:9207796 PMID:10704277 PMID:12058346 PMID:25326635 PMID:25741868 NCBI chr 8:82,038,966...82,156,507
Ensembl chr 8:82,037,977...82,156,617 		JBrowse link
Griscelli syndrome type 2 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 type 2
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:607624		 OMIM
ClinVar		 PMID:8319705 PMID:10835631 PMID:12058346 PMID:12531900 PMID:12648328 PMID:15163896 PMID:15475639 PMID:16278825 PMID:18397837 PMID:19030707 PMID:19953648 PMID:23160464 PMID:24033266 PMID:25071262 PMID:25312756 PMID:25500851 PMID:25544030 PMID:25741868 PMID:25901543 PMID:26880764 PMID:27016801 PMID:28492532 PMID:29357941 PMID:29522846 PMID:30697212 PMID:32860008 NCBI chr 8:79,722,334...79,776,228
Ensembl chr 8:79,722,334...79,776,221 		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 OMIM:609227		 OMIM
ClinVar		 PMID:12148598 PMID:12897212 PMID:25741868 NCBI chr 9:98,072,965...98,108,429
Ensembl chr 9:98,073,038...98,108,433 		JBrowse link
G Myo5a myosin VA ISO ClinVar Annotator: match by null ClinVar PMID:12148598 PMID:12897212 NCBI chr 8:82,038,966...82,156,507
Ensembl chr 8:82,037,977...82,156,617 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      immune system disease 2954
        lymphatic system disease 1102
          histiocytosis 60
            non-Langerhans-cell histiocytosis 53
              hemophagocytic lymphohistiocytosis 39
                Familial Hemophagocytic Lymphohistiocytoses + 32
                Griscelli syndrome + 3
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Immune & Inflammatory Diseases 3585
        immune system disease 2954
          lymphatic system disease 1102
            histiocytosis 60
              non-Langerhans-cell histiocytosis 53
                hemophagocytic lymphohistiocytosis 39
                  Familial Hemophagocytic Lymphohistiocytoses + 32
                  Griscelli syndrome + 3
paths to the root