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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 chronic disease caused by LEISHMANIA DONOVANI and transmitted by the bite of several sandflies of the genera Phlebotomus and Lutzomyia. It is commonly characterized by fever, chills, vomiting, anemia, hepatosplenomegaly, leukopenia, hypergammaglobulinemia, emaciation, and an earth-gray color of the skin. The disease is classified into three main types according to geographic distribution: Indian, Mediterranean (or infantile), and African.
Synonyms:exact_synonym: KALA-AZAR, SUSCEPTIBILITY TO, 1;   KALA-AZAR, SUSCEPTIBILITY TO, 2;   KALA-AZAR, SUSCEPTIBILITY TO, 3;   KAZA1;   KAZA2;   KAZA3;   Kala Azar;   black fever;   infection by visceral leishmaniasis;   visceral leishmaniasis, susceptibility to, 1;   visceral leishmaniasis, susceptibility to, 3
 primary_id: MESH:D007898
 alt_id: OMIM:608207;   OMIM:611381;   OMIM:611382;   RDO:0005977
 xref: ICD10CM:B55.0;   ICD9CM:085.0;   NCI:C34771;   OMIM:PS608207;   ORDO:507
For additional species annotation, visit the Alliance of Genome Resources.


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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 ISO mRNA:altered expression:Bcell,CD4Tcell RGD PMID:31001826 RGD:32716386 NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO protein:increased expression:serum RGD PMID:21991751 RGD:5683905 NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO associated with Malnutrition;mRNA:increased expression:lymph node,spleen: RGD PMID:24818662 RGD:8661728
G Ccr3 C-C motif chemokine receptor 3 ISO protein:increased expression:blood, T cell RGD PMID:15379987 RGD:6893393 NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 treatment ISO RGD PMID:24617012 RGD:14401738 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd40 CD40 molecule treatment ISO RGD PMID:14573667 RGD:8547750 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:14573667 RGD:8547750 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10467834 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Csf2 colony stimulating factor 2 treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:17404324, PMID:8035028 RGD:10449527 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO mRNA:increased expression:liver RGD PMID:16239557 RGD:27095947 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461696, PMID:23729024 RGD:42724459 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Ifng interferon gamma treatment ISO CTD Direct Evidence: therapeutic CTD PMID:1901333 PMID:7854095, PMID:3104456, PMID:27999013 RGD:8158041, RGD:40890273 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15716043 PMID:17404324 PMID:22461696, PMID:29745990 RGD:14975172 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO CTD Direct Evidence: therapeutic CTD PMID:15716043 NCBI chr 8:49,558,062...49,573,891
Ensembl chr 8:49,560,035...49,573,742
JBrowse link
G Il18 interleukin 18 susceptibility ISO RGD PMID:16879623 RGD:8655922 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17404324 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il27 interleukin 27 ISO mRNA, protein:increased expression:spleen, liver (mouse) RGD PMID:27245409 RGD:126790520 NCBI chr 1:198,003,615...198,010,112
Ensembl chr 1:198,003,683...198,008,893
JBrowse link
G Il2rb interleukin 2 receptor subunit beta susceptibility ISO DNA:polymorphisms:exon:8777, 8838(human) RGD PMID:17108990 RGD:42724466 NCBI chr 7:119,701,338...119,716,238
Ensembl chr 7:119,701,251...119,716,238
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7554475 PMID:17404324 PMID:22461696 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Irf5 interferon regulatory factor 5 ISO protein:increased expression:CD4 T cell, nucleus RGD PMID:32038622, PMID:30067973 RGD:40924560, RGD:40924629 NCBI chr 4:56,804,477...56,816,271
Ensembl chr 4:56,805,132...56,820,543
JBrowse link
G Lta lymphotoxin alpha severity ISO DNA:polymorphisms RGD PMID:12438370, PMID:15579454 RGD:8548784, RGD:8548789 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Ltb lymphotoxin beta ISO RGD PMID:12115620 RGD:8548822 NCBI chr20:5,184,631...5,186,476
Ensembl chr20:5,184,515...5,186,503
Ensembl chr20:5,184,515...5,186,503
JBrowse link
G Mbl2 mannose binding lectin 2 disease_progression
susceptibility
ISO protein:increased expression:serum:
DNA:SNPs,haplotype:promoter,exon:
DNA:polymorphism:promoter:
RGD PMID:17357060, PMID:26297290, PMID:26297290, PMID:22995279, PMID:17357060 RGD:8693721, RGD:11522692, RGD:11522692, RGD:8693726, RGD:8693721 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mir155 microRNA 155 ISO RGD PMID:31182615 RGD:21081525 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mir21 microRNA 21 treatment ISO RGD PMID:31608064 RGD:40925951 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 treatment ISO RGD PMID:23729024 RGD:42724459 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta treatment ISO RGD PMID:27999013 RGD:40890273 NCBI chr 5:166,602,053...166,628,028
Ensembl chr 5:166,602,053...166,628,028
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291585 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291585 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321, PMID:17067929 RGD:5684944 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:24242758 RGD:8661696 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Tlr2 toll-like receptor 2 disease_progression ISO RGD PMID:23589575 RGD:15090808 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tnf tumor necrosis factor severity ISO DNA:polymorphisms
CTD Direct Evidence: marker/mechanism
CTD PMID:1901333 PMID:22461696, PMID:12438370, PMID:15579454 RGD:8548784, RGD:8548789 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17014
    disease of anatomical entity 16363
      endocrine system disease 5767
        liver disease 2440
          visceral leishmaniasis 33
Path 2
Term Annotations click to browse term
  disease 17014
    disease of anatomical entity 16363
      nervous system disease 11947
        sensory system disease 5443
          skin disease 2816
            Infectious Skin Diseases 205
              Parasitic Skin Diseases 68
                leishmaniasis 62
                  visceral leishmaniasis 33
paths to the root