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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 ISO mRNA:altered expression:Bcell,CD4Tcell RGD PMID:31001826 RGD:32716386 NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO protein:increased expression:serum RGD PMID:21991751 RGD:5683905 NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO protein:increased expression:blood, T cell RGD PMID:15379987 RGD:6893393 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 treatment ISO RGD PMID:24617012 RGD:14401738 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Cd163 CD163 molecule exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:28355218 RGD:127345133 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
JBrowse link
G Cd40 CD40 molecule treatment ISO RGD PMID:14573667 RGD:8547750 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:14573667 RGD:8547750 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10467834 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Csf2 colony stimulating factor 2 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17404324 PMID:8035028 RGD:10449527 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO mRNA:increased expression:liver RGD PMID:16239557 RGD:27095947 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:22461696 PMID:23729024 RGD:42724459 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Ifng interferon gamma treatment ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:1901333 PMID:7854095 PMID:3104456 PMID:27999013 RGD:8158041, RGD:40890273 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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 chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO CTD Direct Evidence: therapeutic CTD PMID:15716043 NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061
JBrowse link
G Il18 interleukin 18 susceptibility ISO RGD PMID:16879623 RGD:8655922 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17404324 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il27 interleukin 27 ISO mRNA, protein:increased expression:spleen, liver (mouse) RGD PMID:27245409 RGD:126790520 NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
JBrowse link
G Il2rb interleukin 2 receptor subunit beta susceptibility ISO DNA:polymorphisms:exon:8777, 8838(human) RGD PMID:17108990 RGD:42724466 NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7554475 PMID:17404324 PMID:22461696 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
JBrowse link
G Lta lymphotoxin alpha severity ISO DNA:polymorphisms RGD PMID:12438370 PMID:15579454 RGD:8548784, RGD:8548789 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
JBrowse link
G Ltb lymphotoxin beta ISO RGD PMID:12115620 RGD:8548822 NCBI chr20:3,627,536...3,629,381
Ensembl chr20:3,627,537...3,629,381
JBrowse link
G Mbl2 mannose binding lectin 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 chr 1:228,016,439...228,024,736 JBrowse link
G Mir155 microRNA 155 ISO RGD PMID:31182615 RGD:21081525 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Mir21 microRNA 21 treatment ISO RGD PMID:31608064 RGD:40925951 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 treatment ISO RGD PMID:23729024 RGD:42724459 NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta treatment ISO RGD PMID:27999013 RGD:40890273 NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:enhancer: (rs9271858) (human)
CTD
RGD
PMID:23291585 PMID:23291585 RGD:127285406 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291585 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16597321 PMID:17067929 RGD:5684944 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:24242758 RGD:8661696 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Tlr2 toll-like receptor 2 disease_progression ISO RGD PMID:23589575 RGD:15090808 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tnf tumor necrosis factor severity ISO DNA:polymorphisms
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:1901333 PMID:22461696 PMID:12438370 PMID:15579454 RGD:8548784, RGD:8548789 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      endocrine system disease 7029
        liver disease 3007
          visceral leishmaniasis 34
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        Neurologic Manifestations 10420
          sensory system disease 7331
            skin disease 4309
              Infectious Skin Diseases 305
                Parasitic Skin Diseases 71
                  leishmaniasis 65
                    visceral leishmaniasis 34
paths to the root