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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:cutaneous leishmaniasis
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Accession:DOID:9111 term browser browse the term
Definition:A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions. (DO)
Synonyms:exact_synonym: American Leishmaniasis;   Asian desert cutaneous leishmaniasis;   Cutaneous Leishmaniases;   New World Leishmaniasis;   Old World Leishmaniasis;   Oriental Sore;   leproid leishmaniasis
 primary_id: MESH:D016773
 xref: EFO:0005046;   ICD10CM:B55.1;   NCI:C34768


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cutaneous leishmaniasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase ISO protein:decreased activity:erythrocyte: RGD PMID:9892499 RGD:9479188 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20102417 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:12874303 RGD:5688168 NCBI chr 8:123,556,286...123,561,841 JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO mRNA:increased expression:foot, lymph node RGD PMID:12874303 RGD:5688168 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 no_association ISO DNA:frameshift mutation: :p.S185_T195del (rs333) (human) RGD PMID:23632983 PMID:17214851 RGD:8549764, RGD:8549765 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Cd163 CD163 molecule ISO mRNA, protein:increased expression:skin of body, blood plasma, CD14-positive monocyte (human) RGD PMID:32023254 RGD:127345130 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878 		JBrowse link
G Cd274 CD274 molecule ISO RGD PMID:16358363 RGD:41410801 NCBI chr 1:227,116,627...227,137,379
Ensembl chr 1:227,116,649...227,134,450 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO DNA:SNPs: :rs1061237, rs2586488 (human) RGD PMID:25562121 RGD:11041176 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Foxp3 forkhead box P3 ISO mRNA:increased expression:Peripheral blood mononuclear cell: RGD PMID:29205403 RGD:38455981 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G Ifng interferon gamma treatment ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD		 PMID:8154019 PMID:9234779 PMID:20102417 PMID:27999013 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
mRNA:increased expression:Peripheral blood mononuclear cell:		 CTD
RGD		 PMID:20102417 PMID:29205403 RGD:38455981 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il13 interleukin 13 treatment ISO RGD PMID:12739821 PMID:18924210 RGD:8549536, RGD:8549561 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Il17a interleukin 17A ISO mRNA:increased expression:Peripheral blood mononuclear cell: RGD PMID:29205403 RGD:38455981 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20102417 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il23a interleukin 23 subunit alpha ISO RGD PMID:29078003 RGD:39457938 NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923 		JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20102417 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Klrk1 killer cell lectin like receptor K1 treatment ISO associated with lymphocytic choriomeningitis RGD PMID:26290604 RGD:39128165 NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459 		JBrowse link
G Lta lymphotoxin alpha no_association ISO DNA:SNP:intron:252A>G (human) RGD PMID:16950634 RGD:8548800 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:17911622 RGD:8548820 NCBI chr20:3,627,536...3,629,381
Ensembl chr20:3,627,537...3,629,381 		JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21091666 PMID:21091666 RGD:8657030 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Pdcd1lg2 programmed cell death 1 ligand 2 ISO RGD PMID:16358363 RGD:41410801 NCBI chr 1:227,158,941...227,223,938
Ensembl chr 1:227,158,941...227,223,938 		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 Slc11a1 solute carrier family 11 member 1 ISO DNA:insertion/deletion (human) RGD PMID:20089160 RGD:5684930 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101 		JBrowse link
G Sod1 superoxide dismutase 1 ISO protein:increased activity:erythrocyte: RGD PMID:9892499 RGD:9479188 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:10458767 RGD:8661703 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 ISO protein:decreased expression:skin: RGD PMID:20493664 RGD:7794748 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr4 toll-like receptor 4 ISO protein:decreased expression:skin: RGD PMID:20493664 RGD:7794748 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tlr9 toll-like receptor 9 ISO protein:decreased expression:skin: RGD PMID:20493664 RGD:7794748 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796 		JBrowse link
G Tnf tumor necrosis factor no_association ISO DNA:SNP:promoter:-308G>A (rs1800629) (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20102417 PMID:16950634 RGD:8548800 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
mucocutaneous leishmaniasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma ISO CTD Direct Evidence: therapeutic CTD PMID:7854095 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Lta lymphotoxin alpha ISO DNA:polymorphism:intron RGD PMID:7595196 RGD:8548799 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859 		JBrowse link
G Tnf tumor necrosis factor ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:7595196 RGD:8548799 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 21089
    disease by infectious agent 2200
      parasitic infectious disease 324
        parasitic protozoa infectious disease 173
          leishmaniasis 65
            cutaneous leishmaniasis 29
              Diffuse Cutaneous Leishmaniasis 0
              mucocutaneous leishmaniasis 3
Path 2
Term Annotations click to browse term
  disease 21089
    Pathological Conditions, Signs and Symptoms 13265
      Signs and Symptoms 10704
        Neurologic Manifestations 9941
          sensory system disease 6836
            skin disease 3901
              Infectious Skin Diseases 264
                Parasitic Skin Diseases 71
                  leishmaniasis 65
                    cutaneous leishmaniasis 29
                      Diffuse Cutaneous Leishmaniasis 0
                      mucocutaneous leishmaniasis 3
paths to the root