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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 chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20102417 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CCR1 chemokine (C-C motif) receptor 1 ISO RGD PMID:12874303 RGD:5688168 NCBI chr20:42,421,356...42,427,177
Ensembl chr20:42,421,356...42,426,958 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO mRNA:increased expression:foot, lymph node RGD PMID:12874303 RGD:5688168 NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 no_association ISO DNA:frameshift mutation: :p.S185_T195del (rs333) (human) RGD PMID:17214851 PMID:23632983 RGD:8549764 RGD:8549765 NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952 		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 chr27:37,669,757...37,700,746
Ensembl chr27:37,669,827...37,753,106 		JBrowse link
G CD274 CD274 molecule ISO RGD PMID:16358363 RGD:41410801 NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO DNA:SNPs: :rs1061237, rs2586488 (human) RGD PMID:25562121 RGD:11041176 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20102417 NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354 		JBrowse link
G FOXP3 forkhead box P3 ISO mRNA:increased expression:Peripheral blood mononuclear cell: RGD PMID:29205403 RGD:38455981 NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758 		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 chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698 		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 chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		JBrowse link
G IL13 interleukin 13 treatment ISO RGD PMID:12739821 PMID:18924210 RGD:8549536 RGD:8549561 NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388 		JBrowse link
G IL17A interleukin 17A ISO mRNA:increased expression:Peripheral blood mononuclear cell: RGD PMID:29205403 RGD:38455981 NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20102417 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G IL23A interleukin 23 subunit alpha ISO RGD PMID:29078003 RGD:39457938 NCBI chr10:635,384...640,715
Ensembl chr10:638,719...640,359 		JBrowse link
G IL32 interleukin 32 ameliorates
susceptibility		 ISO DNA:SNPs:enhancers: (rs4786370, rs4349147) (human) RGD PMID:28709468 PMID:32023240 RGD:150340717 RGD:150340742 NCBI chr 6:38,119,287...38,122,979 JBrowse link
G IL4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20102417 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534 		JBrowse link
G KLRK1 killer cell lectin like receptor K1 treatment ISO associated with lymphocytic choriomeningitis RGD PMID:26290604 RGD:39128165 NCBI chr27:35,634,938...35,658,978
Ensembl chr27:35,639,280...35,658,882 		JBrowse link
G LTA lymphotoxin alpha no_association ISO DNA:SNP:intron:252A>G (human) RGD PMID:16950634 RGD:8548800 NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067 		JBrowse link
G LTB lymphotoxin beta ISO RGD PMID:17911622 RGD:8548820 NCBI chr12:1,079,340...1,084,785
Ensembl chr12:1,079,358...1,081,153 		JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:21091666 RGD:8657030 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113 		JBrowse link
G PDCD1LG2 programmed cell death 1 ligand 2 ISO RGD PMID:16358363 RGD:41410801 NCBI chr 1:93,631,676...93,698,560
Ensembl chr 1:93,631,979...93,689,266 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta treatment ISO RGD PMID:27999013 RGD:40890273 NCBI chr 5:62,884,596...62,936,882
Ensembl chr 5:62,909,009...62,935,971 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO DNA:insertion/deletion (human) RGD PMID:20089160 RGD:5684930 NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282 		JBrowse link
G SOD1 superoxide dismutase 1 ISO protein:increased activity:erythrocyte: RGD PMID:9892499 RGD:9479188 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO RGD PMID:10458767 RGD:8661703 NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894 		JBrowse link
G TLR2 toll like receptor 2 ISO protein:decreased expression:skin: RGD PMID:20493664 RGD:7794748 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241 		JBrowse link
G TLR4 toll like receptor 4 ISO protein:decreased expression:skin: RGD PMID:20493664 RGD:7794748 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165 		JBrowse link
G TLR9 toll like receptor 9 ISO protein:decreased expression:skin: RGD PMID:20493664 RGD:7794748 NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114 		JBrowse link
G TNF tumor necrosis factor no_association ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:promoter:-308G>A (rs1800629) (human)		 CTD
RGD		 PMID:16950634 PMID:20102417 RGD:8548800 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		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 chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698 		JBrowse link
G LTA lymphotoxin alpha ISO DNA:polymorphism:intron RGD PMID:7595196 RGD:8548799 NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067 		JBrowse link
G TNF tumor necrosis factor ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:7595196 RGD:8548799 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease by infectious agent 2127
      parasitic infectious disease 302
        parasitic protozoa infectious disease 155
          leishmaniasis 66
            cutaneous leishmaniasis 31
              Diffuse Cutaneous Leishmaniasis 0
              mucocutaneous leishmaniasis 3
Path 2
Term Annotations click to browse term
  disease 17773
    Pathological Conditions, Signs and Symptoms 12020
      Signs and Symptoms 9897
        Neurologic Manifestations 9572
          sensory system disease 6589
            skin disease 3751
              Infectious Skin Diseases 248
                Parasitic Skin Diseases 70
                  leishmaniasis 66
                    cutaneous leishmaniasis 31
                      Diffuse Cutaneous Leishmaniasis 0
                      mucocutaneous leishmaniasis 3
paths to the root