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visceral leishmaniasis - Ontology Report - Rat Genome Database

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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:visceral leishmaniasis
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Accession:DOID:9146 term browser browse the term
Definition:A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver. (DO)
Synonyms:exact_synonym: black fever;   infection by visceral leishmaniasis;   kala azar
 related_synonym: KAZA1;   KAZA2;   KAZA3;   kala azar, susceptibility to, 1;   kala azar, susceptibility to, 2;   kala azar, susceptibility to, 3;   visceral leishmaniasis, susceptibility to, 1;   visceral leishmaniasis, susceptibility to, 3
 xref: EFO:0005045;   ICD10CM:B55.0;   ICD9CM:085.0;   MESH:D007898;   MIM:608207;   MIM:611381;   MIM:611382;   MIM:PS608207;   MONDO:0005445;   NCI:C34771

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visceral leishmaniasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase IMP
IEP		 mRNA:altered expression:Bcell,CD4Tcell RGD PMID:31001826 PMID:31001826 RGD:32716386, RGD:32716386 NCBI chr 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139 		JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO protein:increased expression:serum RGD PMID:21991751 RGD:5683905 NCBI chr11:83,553,410...83,555,509
Ensembl chr11:83,553,410...83,555,509 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 IEP
IMP		 associated with Malnutrition;mRNA:increased expression:lymph node,spleen: RGD PMID:24818662 PMID:24818662 RGD:8661728, RGD:8661728 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO protein:increased expression:blood, T cell RGD PMID:15379987 RGD:6893393 NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 treatment IMP RGD PMID:24617012 RGD:14401738 NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736 		JBrowse link
G Cd163 CD163 antigen exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:28355218 RGD:127345133 NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486 		JBrowse link
G Cd40 CD40 antigen treatment IMP RGD PMID:14573667 RGD:8547750 NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868 		JBrowse link
G Cd40lg CD40 ligand IMP RGD PMID:14573667 RGD:8547750 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Crp C-reactive protein, pentraxin-related ISO CTD Direct Evidence: marker/mechanism CTD PMID:10467834 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598 		JBrowse link
G Csf2 colony stimulating factor 2 (granulocyte-macrophage) treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:17404324 PMID:8035028 RGD:10449527 NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 IEP mRNA:increased expression:liver RGD PMID:16239557 RGD:27095947 NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748 		JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 susceptibility
treatment		 ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:promoter:g.-251A>T (human)		 CTD
RGD		 PMID:22461696 PMID:25821028 PMID:32984951 RGD:150523789, RGD:150523791 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926 		JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:enhancer: (rs9271858) (human)		 CTD
RGD		 PMID:23291585 PMID:23291585 RGD:127285406 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291585 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:22461696 PMID:23729024 RGD:42724459 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217 		JBrowse link
G Ifng interferon gamma treatment IDA
ISO
IEP		 CTD Direct Evidence: therapeutic CTD
RGD		 PMID:1901333 PMID:7854095 PMID:3104456 PMID:27999013 RGD:8158041, RGD:40890273 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15716043 PMID:17404324 PMID:22461696 PMID:29745990 RGD:14975172 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il10ra interleukin 10 receptor, alpha ISO CTD Direct Evidence: therapeutic CTD PMID:15716043 NCBI chr 9:45,165,135...45,180,447
Ensembl chr 9:45,165,135...45,180,447 		JBrowse link
G Il18 interleukin 18 susceptibility IMP RGD PMID:16879623 RGD:8655922 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17404324 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Il27 interleukin 27 IEP mRNA, protein:increased expression:spleen, liver (mouse) RGD PMID:27245409 RGD:126790520 NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113 		JBrowse link
G Il2rb interleukin 2 receptor, beta chain susceptibility ISO DNA:polymorphisms:exon:8777, 8838(human) RGD PMID:17108990 RGD:42724466 NCBI chr15:78,363,456...78,396,569
Ensembl chr15:78,363,456...78,379,471 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7554475 PMID:17404324 PMID:22461696 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Irf5 interferon regulatory factor 5 IMP
IEP		 protein:increased expression:CD4 T cell, nucleus RGD PMID:32038622 PMID:30067973 RGD:40924560, RGD:40924629 NCBI chr 6:29,526,129...29,541,874
Ensembl chr 6:29,526,624...29,541,870 		JBrowse link
G Lta lymphotoxin A severity ISO
IMP		 DNA:polymorphisms RGD PMID:12438370 PMID:15579454 RGD:8548784, RGD:8548789 NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327 		JBrowse link
G Ltb lymphotoxin B IMP RGD PMID:12115620 RGD:8548822 NCBI chr17:35,413,483...35,415,281
Ensembl chr17:35,413,415...35,415,296 		JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 disease_progression
susceptibility		 ISO DNA:polymorphism:promoter:
DNA:SNPs,haplotype:promoter,exon:
protein:increased expression:serum:		 RGD PMID:17357060 PMID:17357060 PMID:22995279 PMID:26297290 PMID:26297290 RGD:8693721, RGD:8693721, RGD:8693726, RGD:11522692, RGD:11522692 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087 		JBrowse link
G Mir155 microRNA 155 IMP RGD PMID:31182615 RGD:21081525 NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092 		JBrowse link
G Mir21a microRNA 21a treatment IEP RGD PMID:31608064 RGD:40925951 NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984 		JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 treatment ISO RGD PMID:23729024 RGD:42724459 NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985 		JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta treatment IMP RGD PMID:27999013 RGD:40890273 NCBI chr 4:149,733,625...149,787,023
Ensembl chr 4:149,733,625...149,787,028 		JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16597321 PMID:17067929 RGD:5684944 NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 IMP RGD PMID:24242758 RGD:8661696 NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348 		JBrowse link
G Tlr2 toll-like receptor 2 disease_progression IMP RGD PMID:23589575 RGD:15090808 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074 		JBrowse link
G Tnf tumor necrosis factor severity ISO
IMP		 DNA:polymorphisms
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:1901333 PMID:22461696 PMID:12438370 PMID:15579454 RGD:8548784, RGD:8548789 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16268
    disease of anatomical entity 15860
      endocrine system disease 6555
        liver disease 2999
          visceral leishmaniasis 35
Path 2
Term Annotations click to browse term
  disease 16268
    disease of anatomical entity 15860
      nervous system disease 13798
        Neurologic Manifestations 10214
          sensory system disease 7193
            skin disease 4182
              Infectious Skin Diseases 291
                Parasitic Skin Diseases 72
                  leishmaniasis 66
                    visceral leishmaniasis 35
paths to the root