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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:leprosy
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Accession:DOID:1024 term browser browse the term
Definition:A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage. (DO)
Synonyms:exact_synonym: Hansen disease;   Hansen's disease;   Hansens Disease;   LEPROSY, PAUCIBACILLARY TYPE, SUSCEPTIBILITY TO, 1;   Leprosies
 narrow_synonym: LEPROSY, EARLY-ONSET, SUSCEPTIBILITY TO;   LEPROSY, PROTECTION AGAINST
 related_synonym: LPRS1;   LPRS2;   LPRS3;   LPRS4;   LPRS5;   LPRS6;   leprosy, susceptibility to, 1;   leprosy, susceptibility to, 2;   leprosy, susceptibility to, 3;   leprosy, susceptibility to, 4;   leprosy, susceptibility to, 5;   leprosy, susceptibility to, 6;   susceptibility to leprosy and multibacillary leprosy
 primary_id: MESH:D007918
 alt_id: OMIM:246300;   OMIM:607572;   OMIM:609888;   OMIM:610988;   OMIM:613223;   OMIM:613407
 xref: GARD:6886;   ICD10CM:A30;   ICD9CM:030;   NCI:C84824;   ORDO:548
For additional species annotation, visit the Alliance of Genome Resources.



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leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BATF3 basic leucine zipper ATF-like transcription factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25642632 NCBI chr 1:212,686,417...212,699,840
Ensembl chr 1:212,686,417...212,699,840
JBrowse link
G CCDC88B coiled-coil domain containing 88B EXP CTD Direct Evidence: marker/mechanism CTD PMID:25642632 NCBI chr11:64,340,204...64,357,534
Ensembl chr11:64,340,204...64,357,534
JBrowse link
G CD8A CD8a molecule exacerbates HEP mRNA:increased expression:blood (human) RGD PMID:31784594 RGD:124715449 NCBI chr 2:86,784,605...86,808,396
Ensembl chr 2:86,784,610...86,808,396
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 severity IAGP DNA:SNP:promoter:g.-353T>A (rs4073) (human) RGD PMID:30303246 RGD:40400755 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphisms (human) RGD PMID:20003324 PMID:19698125 RGD:5147585, RGD:5147788 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G IL17A interleukin 17A severity IEP mRNA:decreased expression:epidermis (human) RGD PMID:22641009 RGD:8698644 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G IL23R interleukin 23 receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979
JBrowse link
G LOC100287329 uncharacterized LOC100287329 IAGP ClinVar Annotator: match by term: Leprosy, early-onset, susceptibility to ClinVar PMID:15052269 PMID:17353895 NCBI chr 6:31,559,571...31,572,703 JBrowse link
G LTA lymphotoxin alpha susceptibility IAGP
EXP
ClinVar Annotator: match by term: Leprosy, early-onset, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:15052269 PMID:17353895 NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324
JBrowse link
G MRC1 mannose receptor C-type 1 IAGP ClinVar Annotator: match by term: Susceptibility to leprosy and multibacillary leprosy ClinVar PMID:20035344 NCBI chr10:17,809,348...17,911,164
Ensembl chr10:17,809,348...17,911,164
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP DNA:polymorphisms: :multiple (human) RGD PMID:20350193 RGD:5508743 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase IAGP ClinVar Annotator: match by term: Leprosy, susceptibility to, 2 ClinVar PMID:10072423 PMID:11558785 PMID:11889248 PMID:12730996 PMID:12891670 More... NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775
JBrowse link
G RAB32 RAB32, member RAS oncogene family EXP CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chr 6:146,543,833...146,554,953
Ensembl chr 6:146,543,833...146,554,953
JBrowse link
G SLC11A1 solute carrier family 11 member 1 susceptibility IAGP
EXP
DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms, haplotype (human)
CTD
RGD
PMID:16597321 PMID:15755200 PMID:10608779 RGD:5684957, RGD:5684972 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
JBrowse link
G TLR1 toll like receptor 1 susceptibility IAGP
EXP
DNA:snp:cds:p.I602S (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leprosy, protection against
ClinVar Annotator: match by term: LEPROSY, SUSCEPTIBILITY TO, 5
CTD
OMIM
ClinVar
RGD
PMID:17475868 PMID:17548585 PMID:18461142 PMID:19456232 PMID:23105135 More... RGD:7246917 NCBI chr 4:38,787,569...38,805,644
Ensembl chr 4:38,790,677...38,856,817
JBrowse link
G TLR2 toll like receptor 2 susceptibility IAGP
EXP
DNA:polymorphisms:microsatellite,597C>T(human)
ClinVar Annotator: match by term: LEPROSY, SUSCEPTIBILITY TO, 3
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:11476982 PMID:12646604 PMID:15726416 PMID:19111445 PMID:25741868 More... RGD:8553055 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,070...153,706,260
JBrowse link
G TNF tumor necrosis factor susceptibility IAGP DNA:SNP:promoter:−308G>A (human) RGD PMID:20650301 RGD:8694069 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFSF8 TNF superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25320285 NCBI chr 9:114,893,343...114,930,595
Ensembl chr 9:114,893,343...114,930,595
JBrowse link
lepromatous leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 severity IEP protein:decreased expression:serum RGD PMID:6342123 RGD:7411735 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G CD163 CD163 molecule exacerbates IEP protein:increased expression:blood serum (human) RGD PMID:22851198 PMID:28355218 RGD:39939078, RGD:127345133 NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
JBrowse link
G CFB complement factor B severity IEP RGD PMID:6342123 RGD:7411735 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphisms: :HLA-DQA1*03, HLA-DQA1*05 (human) RGD PMID:19698125 RGD:5147788 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G IL27 interleukin 27 ameliorates IEP mRNA:decreased expression:skin of body (human) RGD PMID:26030183 RGD:126790539 NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility IAGP DNA:SNP:cds:161G>A (human) RGD PMID:20650301 RGD:8694069 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G VDR vitamin D receptor IEA GAD PMID:15118671 RGD:1331525 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
JBrowse link
Multibacillary Leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GGT1 gamma-glutamyltransferase 1 IEP protein:increased activity:blood: RGD PMID:1680936 RGD:14747017 NCBI chr22:24,583,750...24,628,996
Ensembl chr22:24,594,811...24,629,005
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP DNA:polymorphism (human) RGD PMID:20353806 RGD:5147577 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G SLC11A1 solute carrier family 11 member 1 IAGP DNA:insertion/deletion:3' utr (human) RGD PMID:11791966 RGD:5684970 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
JBrowse link
Paucibacillary Leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GGT1 gamma-glutamyltransferase 1 IEP protein:increased activity:blood: RGD PMID:1680936 RGD:14747017 NCBI chr22:24,583,750...24,628,996
Ensembl chr22:24,594,811...24,629,005
JBrowse link
tuberculoid leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility IAGP DNA:polymorphism: : RGD PMID:9062973 RGD:5147851 NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739
JBrowse link
G VDR vitamin D receptor IEA GAD PMID:15118671 RGD:1331525 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22067
    sensory system disease 7151
      eye disease 3311
        leprosy 27
          Multibacillary Leprosy + 10
          Paucibacillary Leprosy + 3
          indeterminate leprosy 0
          lepromatous leprosy 7
Path 2
Term Annotations click to browse term
  disease 22067
    disease by infectious agent 2524
      Bacterial Infections and Mycoses 1050
        bacterial infectious disease 842
          Gram-Positive Bacterial Infections 436
            Actinomycetales Infections 368
              Mycobacterium Infections 367
                leprosy 27
                  Multibacillary Leprosy + 10
                  Paucibacillary Leprosy + 3
                  indeterminate leprosy 0
                  lepromatous leprosy 7
paths to the root