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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;   TLR1-RELATED CONDITION
 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: MIM:246300;   MIM:607572;   MIM:609888;   MIM:610988;   MIM:613223;   MIM:613407
 xref: EFO:0001054;   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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25642632 NCBI chr13:102,689,657...102,701,241 JBrowse link
G Ccdc122 coiled-coil domain containing 122 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr15:52,407,717...52,470,163 JBrowse link
G Ccdc88b coiled-coil domain containing 88B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25642632 NCBI chr 1:204,036,913...204,052,878 JBrowse link
G Cd8a CD8 subunit alpha exacerbates ISO mRNA:increased expression:blood (human) RGD PMID:31784594 RGD:124715449 NCBI chr 4:104,924,116...104,928,353 JBrowse link
G Il10 interleukin 10 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:28492532 NCBI chr13:45,024,921...45,029,586 JBrowse link
G Il17a interleukin 17A severity ISO mRNA:decreased expression:epidermis (human) RGD PMID:22641009 RGD:8698644 NCBI chr 9:30,640,844...30,644,331 JBrowse link
G Il19 interleukin 19 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:28492532 NCBI chr13:42,397,715...42,411,637 JBrowse link
G Il23r interleukin 23 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chr 4:96,580,568...96,672,540 JBrowse link
G Lacc1 laccase domain containing 1 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr15:52,390,267...52,407,630 JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:124,706,246...124,867,234 JBrowse link
G Lta lymphotoxin alpha susceptibility ISO ClinVar Annotator: match by term: Leprosy, early-onset, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:15052269 PMID:17353895 NCBI chr20:3,622,291...3,625,852 JBrowse link
G Mrc1 mannose receptor, C type 1 ISO ClinVar Annotator: match by term: Susceptibility to leprosy and multibacillary leprosy ClinVar PMID:20035344 NCBI chr17:82,157,725...82,239,411 JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO DNA:polymorphisms: :multiple (human)
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1		 ClinVar
RGD		 PMID:25741868 PMID:20350193 RGD:5508743 NCBI chr19:34,555,832...34,596,281 JBrowse link
G Parl presenilin associated, rhomboid-like ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr11:80,594,059...80,620,506 JBrowse link
G Pink1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 5:155,813,838...155,825,950 JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: LPRS2 ClinVar PMID:10072423 PMID:11558785 PMID:11889248 PMID:12114481 PMID:12730996 More... NCBI chr 1:51,236,410...52,430,242 JBrowse link
G Rab32 RAB32, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chr 1:4,946,193...4,961,003 JBrowse link
G Ripk2 receptor-interacting serine-threonine kinase 2 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 5:34,428,573...34,459,808 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms (human) RGD PMID:20003324 PMID:19698125 RGD:5147585, RGD:5147788 NCBI chr20:4,548,664...4,558,237 JBrowse link
G Slc11a1 solute carrier family 11 member 1 susceptibility ISO 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 9:75,957,193...75,968,115 JBrowse link
G Tlr1 toll-like receptor 1 susceptibility ISO DNA:snp:cds:p.I602S (human)
ClinVar Annotator: match by term: LPRS1 | ClinVar Annotator: match by term: TLR1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:17475868 PMID:17548585 PMID:18461142 PMID:19456232 PMID:23105135 More... RGD:7246917 NCBI chr14:43,737,761...43,750,389 JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO 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 2:171,499,189...171,504,831 JBrowse link
G Tlr6 toll-like receptor 6 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr14:43,715,809...43,727,019 JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP:promoter:−308G>A (human) RGD PMID:20650301 RGD:8694069 NCBI chr20:3,626,685...3,629,303 JBrowse link
G Tnfsf15 TNF superfamily member 15 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 5:77,134,885...77,156,171 JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25320285 NCBI chr 5:82,266,436...82,292,858 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 ISO protein:decreased expression:serum RGD PMID:6342123 RGD:7411735 NCBI chr 9:2,174,412...2,201,339 JBrowse link
G Cd163 CD163 molecule exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:22851198 PMID:28355218 RGD:39939078, RGD:127345133 NCBI chr 4:157,085,080...157,118,470 JBrowse link
G Cfb complement factor B severity ISO RGD PMID:6342123 RGD:7411735 NCBI chr20:3,970,643...3,976,510 JBrowse link
G Il27 interleukin 27 ameliorates ISO mRNA:decreased expression:skin of body (human) RGD PMID:26030183 RGD:126790539 NCBI chr 1:181,173,108...181,178,720 JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:SNP:cds:161G>A (human) RGD PMID:20650301 RGD:8694069 NCBI chr 1:237,429,873...237,465,567 JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms: :HLA-DQA1*03, HLA-DQA1*05 (human) RGD PMID:19698125 RGD:5147788 NCBI chr20:4,575,134...4,579,727 JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:130,864,764...130,916,757 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 ISO protein:increased activity:blood: RGD PMID:1680936 RGD:14747017 NCBI chr20:13,074,695...13,104,095 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:20353806 RGD:5147577 NCBI chr20:4,548,664...4,558,237 JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:insertion/deletion:3' utr (human) RGD PMID:11791966 RGD:5684970 NCBI chr 9:75,957,193...75,968,115 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 ISO protein:increased activity:blood: RGD PMID:1680936 RGD:14747017 NCBI chr20:13,074,695...13,104,095 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 ISO DNA:polymorphism: : RGD PMID:9062973 RGD:5147851 NCBI chr20:4,636,347...4,650,387 JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:130,864,764...130,916,757 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    sensory system disease 7376
      eye disease 3722
        leprosy 35
          Multibacillary Leprosy + 10
          Paucibacillary Leprosy + 3
          indeterminate leprosy 0
          lepromatous leprosy 7
Path 2
Term Annotations click to browse term
  disease 19139
    disease by infectious agent 2254
      Bacterial Infections and Mycoses 1118
        bacterial infectious disease 824
          Gram-Positive Bacterial Infections 395
            Actinomycetales Infections 321
              Mycobacterium Infections 320
                leprosy 35
                  Multibacillary Leprosy + 10
                  Paucibacillary Leprosy + 3
                  indeterminate leprosy 0
                  lepromatous leprosy 7
paths to the root