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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:Familial Hemophagocytic Lymphohistiocytoses
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Accession:DOID:9004404 term browser browse the term
Definition:Hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder, is characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained. Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation. (OMIM)
Synonyms:exact_synonym: FEL;   FHL;   FHLH;   Familial Hemophagocytic Reticulosis;   familial erythrophagocytic lymphohistiocytoses;   familial erythrophagocytic lymphohistiocytosis;   familial hemophagocytic histiocytoses;   familial hemophagocytic histiocytosis;   familial hemophagocytic lymphohistiocytosis;   familial hemophagocytic reticuloses;   familial histiocytic reticuloses;   familial histiocytic reticulosis
 xref: NCI:C61276
For additional species annotation, visit the Alliance of Genome Resources.



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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:1156555 PMID:10583959 PMID:11179007 PMID:11756153 PMID:14757862 More... NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
JBrowse link
G Stx11 syntaxin 11 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis ClinVar PMID:20486178 PMID:24033266 PMID:28492532 NCBI chr 1:7,293,427...7,320,060
Ensembl chr 1:7,289,976...7,320,164
JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis ClinVar PMID:16199547 PMID:19804848 PMID:19884660 PMID:20558610 PMID:20823128 More... NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458
JBrowse link
G Unc13d unc-13 homolog D ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis ClinVar PMID:25741868 PMID:28492532 NCBI chr10:101,296,755...101,311,513
Ensembl chr10:101,296,776...101,311,687
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 chr20:29,379,444...29,400,131
Ensembl chr20:29,382,668...29,399,946
JBrowse link
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 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
JBrowse link
G Il33 interleukin 33 ISO associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen: RGD PMID:26518437 RGD:11343232 NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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 2:56,224,393...56,292,988
Ensembl chr 2:56,250,120...56,286,699
JBrowse link
G Nodal nodal growth differentiation factor ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:28492532 NCBI chr20:29,368,436...29,376,837
Ensembl chr20:29,368,436...29,376,837
JBrowse link
G Pald1 phosphatase domain containing, paladin 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:28492532 NCBI chr20:29,269,814...29,334,850
Ensembl chr20:29,270,193...29,334,858
JBrowse link
G Prf1 perforin 1 ISO DNA:missense mutations, nonsense mutations: :multiple
ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2
ClinVar Annotator: match by OMIM:603553
ClinVar
OMIM
RGD
PMID:1156555 PMID:7851014 PMID:10583959 PMID:11179007 PMID:11565555 More... RGD:6482809 NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
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
RGD
PMID:9536098 PMID:10459864 PMID:14622600 PMID:16199547 PMID:16278825 More... RGD:1600451 NCBI chr10:101,296,755...101,311,513
Ensembl chr10:101,296,776...101,311,687
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:15703195 PMID:20486178 PMID:28492532 PMID:28750028 NCBI chr 1:7,885,986...7,900,777
Ensembl chr 1:7,885,918...7,900,776
JBrowse link
G Ltv1 LTV1 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:15703195 PMID:20486178 PMID:28492532 PMID:28750028 NCBI chr 1:7,565,673...7,578,398
Ensembl chr 1:7,565,669...7,578,563
JBrowse link
G Pex3 peroxisomal biogenesis factor 3 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:15703195 PMID:20486178 PMID:28492532 PMID:28750028 NCBI chr 1:7,912,508...7,954,474
Ensembl chr 1:7,912,506...7,954,518
JBrowse link
G Phactr2 phosphatase and actin regulator 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:15703195 PMID:20486178 PMID:28492532 PMID:28750028 NCBI chr 1:7,591,254...7,860,431
Ensembl chr 1:7,597,927...7,860,289
JBrowse link
G Plagl1 PLAG1 like zinc finger 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:15703195 PMID:20486178 PMID:28492532 PMID:28750028 NCBI chr 1:7,477,295...7,517,229
Ensembl chr 1:7,477,177...7,517,228
JBrowse link
G Sf3b5 splicing factor 3b, subunit 5 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:15703195 PMID:20486178 PMID:28492532 PMID:28750028 NCBI chr 1:7,357,040...7,357,752
Ensembl chr 1:7,350,731...7,357,839
JBrowse link
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:20486178 PMID:24033266 PMID:24459464 PMID:24524345 More... NCBI chr 1:7,293,427...7,320,060
Ensembl chr 1:7,289,976...7,320,164
JBrowse link
G Zc2hc1b zinc finger, C2HC-type containing 1B ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:15703195 PMID:20486178 PMID:28492532 PMID:28750028 NCBI chr 1:7,537,291...7,565,054
Ensembl chr 1:7,537,291...7,565,054
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 chr12:1,643,062...1,666,685
Ensembl chr12:1,643,251...1,666,685
JBrowse link
G Ccl25 C-C motif chemokine ligand 25 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,707,398...2,716,571
Ensembl chr12:2,707,398...2,716,554
JBrowse link
G Cd209 CD209 molecule ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
JBrowse link
G Cd320 CD320 molecule ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr 7:14,626,171...14,631,976
Ensembl chr 7:14,609,146...14,631,976
JBrowse link
G Cers4 ceramide synthase 4 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,851,784...2,890,244
Ensembl chr12:2,851,784...2,886,828
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 chr12:1,780,370...1,785,027
Ensembl chr12:1,780,371...1,784,985
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 chr12:1,915,902...1,924,529
Ensembl chr12:1,915,919...1,924,539
JBrowse link
G Ctxn1 cortexin 1 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,610,465...2,612,076 JBrowse link
G Elavl1 ELAV like RNA binding protein 1 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,640,936...2,684,787
Ensembl chr12:2,645,061...2,684,784
JBrowse link
G Evi5l ecotropic viral integration site 5-like ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,519,648...2,558,766
Ensembl chr12:2,519,671...2,559,950
JBrowse link
G Fcer2 Fc epsilon receptor II ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:1,742,809...1,754,476
Ensembl chr12:1,742,815...1,754,476
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 chr12:2,578,240...2,589,407
Ensembl chr12:2,578,315...2,589,412
JBrowse link
G Map2k7 mitogen activated protein kinase kinase 7 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,591,312...2,604,211
Ensembl chr12:2,591,219...2,604,222
JBrowse link
G Mcemp1 mast cell-expressed membrane protein 1 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:1,721,781...1,727,350
Ensembl chr12:1,718,730...1,725,986
JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
JBrowse link
G Pcp2 Purkinje cell protein 2 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:1,681,659...1,683,899
Ensembl chr12:1,681,659...1,683,899
JBrowse link
G Pet100 PET100 cytochrome c oxidase chaperone ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:1,679,805...1,682,540
Ensembl chr12:1,679,859...1,682,540
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
JBrowse link
G Retn resistin ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
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 chr12:2,605,794...2,608,997
Ensembl chr12:2,605,810...2,608,999
JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19804848 PMID:19884660 More... NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458
JBrowse link
G Tgfbr3l transforming growth factor beta receptor 3 like ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 Ensembl chr12:2,600,934...2,604,222 JBrowse link
G Timm44 translocase of inner mitochondrial membrane 44 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,612,581...2,629,374
Ensembl chr12:2,612,581...2,629,351
JBrowse link
G Trappc5 trafficking protein particle complex subunit 5 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:1,737,666...1,741,312
Ensembl chr12:1,737,627...1,742,637
JBrowse link
G Xab2 XPA binding protein 2 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:1,667,672...1,679,702
Ensembl chr12:1,667,672...1,679,692
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 chr13:73,174,075...73,245,762
Ensembl chr13:73,173,946...73,238,839
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9531
        genetic disease 9032
          Familial Hemophagocytic Lymphohistiocytoses 42
            Familial Hemophagocytic Lymphohistiocytosis 6 1
            familial hemophagocytic lymphohistiocytosis 1 0
            familial hemophagocytic lymphohistiocytosis 2 7
            familial hemophagocytic lymphohistiocytosis 3 1
            familial hemophagocytic lymphohistiocytosis 4 8
            familial hemophagocytic lymphohistiocytosis 5 25
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      Immune & Inflammatory Diseases 4039
        immune system disease 3401
          lymphatic system disease 1334
            histiocytosis 71
              non-Langerhans-cell histiocytosis 63
                hemophagocytic lymphohistiocytosis 50
                  Familial Hemophagocytic Lymphohistiocytoses 42
                    Familial Hemophagocytic Lymphohistiocytosis 6 1
                    familial hemophagocytic lymphohistiocytosis 1 0
                    familial hemophagocytic lymphohistiocytosis 2 7
                    familial hemophagocytic lymphohistiocytosis 3 1
                    familial hemophagocytic lymphohistiocytosis 4 8
                    familial hemophagocytic lymphohistiocytosis 5 25
paths to the root