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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: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 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: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:16937360, 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:21303357, 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:23690113, 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:26605207, 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 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 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
PMID:31636267 NCBI chr13:78,723,028...78,794,663
Ensembl chr13:78,722,763...78,789,266
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          Familial Hemophagocytic Lymphohistiocytoses 30
            Familial Hemophagocytic Lymphohistiocytosis 6 1
            familial hemophagocytic lymphohistiocytosis 1 0
            familial hemophagocytic lymphohistiocytosis 2 2
            familial hemophagocytic lymphohistiocytosis 3 1
            familial hemophagocytic lymphohistiocytosis 4 1
            familial hemophagocytic lymphohistiocytosis 5 25
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Immune & Inflammatory Diseases 3506
        immune system disease 2926
          lymphatic system disease 1094
            histiocytosis 58
              non-Langerhans-cell histiocytosis 51
                hemophagocytic lymphohistiocytosis 37
                  Familial Hemophagocytic Lymphohistiocytoses 30
                    Familial Hemophagocytic Lymphohistiocytosis 6 1
                    familial hemophagocytic lymphohistiocytosis 1 0
                    familial hemophagocytic lymphohistiocytosis 2 2
                    familial hemophagocytic lymphohistiocytosis 3 1
                    familial hemophagocytic lymphohistiocytosis 4 1
                    familial hemophagocytic lymphohistiocytosis 5 25
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.