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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 chronic granulomatous infection caused by MYCOBACTERIUM LEPRAE. The granulomatous lesions are manifested in the skin, the mucous membranes, and the peripheral nerves. Two polar or principal types are lepromatous and tuberculoid.
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;   SUSCEPTIBILITY TO LEPROSY AND MULTIBACILLARY LEPROSY;   leprosy, susceptibility to, 1;   leprosy, susceptibility to, 2;   leprosy, susceptibility to, 3;   leprosy, susceptibility to, 4;   leprosy, susceptibility to, 5;   leprosy, susceptibility to, 6
 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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25642632 NCBI chr13:109,713,376...109,726,438
Ensembl chr13:109,713,489...109,724,863 		JBrowse link
G Ccdc88b coiled-coil domain containing 88B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25642632 NCBI chr 1:222,102,436...222,118,485
Ensembl chr 1:222,102,437...222,118,459 		JBrowse link
G Il17a interleukin 17A severity ISO mRNA:decreased expression:epidermis (human) RGD PMID:22641009 RGD:8698644 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786 		JBrowse link
G Il23r interleukin 23 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173 		JBrowse link
G Lta lymphotoxin alpha susceptibility ISO ClinVar Annotator: match by synonym: Leprosy, early-onset, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:15052269 PMID:17353895 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677 		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 chr17:81,352,700...81,433,743
Ensembl chr17:81,352,700...81,433,743 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO DNA:polymorphisms: :multiple (human) RGD PMID:20350193 RGD:5508743 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492 		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:12730996 PMID:12891670 PMID:14519684 PMID:15390068 PMID:15970950 PMID:16049031 PMID:16714300 PMID:17766365 PMID:19162522 PMID:19636047 PMID:19801972 PMID:20457763 PMID:20798600 PMID:22118943 PMID:22555654 PMID:23531835 PMID:24033266 PMID:24082139 PMID:24831986 PMID:25591737 PMID:25741868 PMID:25815004 PMID:25907632 PMID:25939424 PMID:26188007 PMID:26467025 PMID:26764160 PMID:26836416 PMID:26855076 PMID:27182553 PMID:27294386 PMID:28492532 NCBI chr 1:48,880,015...50,069,998 JBrowse link
G Rab32 RAB32, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chr 1:4,638,663...4,653,220
Ensembl chr 1:4,637,491...4,653,210 		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 chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190 		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 PMID:16597321, PMID:15755200, PMID:10608779 RGD:5684957, RGD:5684972 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706 		JBrowse link
G Tlr1 toll-like receptor 1 susceptibility ISO DNA:snp:cds:p.I602S (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leprosy, protection against
ClinVar Annotator: match by OMIM:613223		 CTD
OMIM
ClinVar		 PMID:17475868 PMID:17548585 PMID:18461142 PMID:19456232 PMID:23105135 PMID:26729809, PMID:17548585 RGD:7246917 NCBI chr14:45,062,662...45,065,014
Ensembl chr14:45,062,662...45,081,991 		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 Annotator: match by OMIM:246300		 ClinVar
CTD
OMIM		 PMID:11476982 PMID:12646604 PMID:15726416 PMID:19111445 PMID:25741868, PMID:18177245 RGD:8553055 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061 		JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP:promoter:−308G>A (human) RGD PMID:20650301 RGD:8694069 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25320285 NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258 		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 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167 		JBrowse link
G Cfb complement factor B severity ISO RGD PMID:6342123 RGD:7411735 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066 		JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:SNP:cds:161G>A (human) RGD PMID:20650301 RGD:8694069 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962 		JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166 		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 chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:20353806 RGD:5147577 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:insertion/deletion:3' utr (human) RGD PMID:11791966 RGD:5684970 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706 		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 chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068 		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 chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587 		JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    sensory system disease 5245
      eye disease 2673
        leprosy 21
          Multibacillary Leprosy + 7
          Paucibacillary Leprosy + 3
          borderline leprosy 0
          indeterminate leprosy 0
          lepromatous leprosy 4
          tuberculoid leprosy 2
Path 2
Term Annotations click to browse term
  disease 16123
    disease by infectious agent 1824
      Bacterial Infections and Mycoses 703
        bacterial infectious disease 593
          Gram-Positive Bacterial Infections 210
            Actinomycetales Infections 153
              Mycobacterium Infections 152
                leprosy 21
                  Multibacillary Leprosy + 7
                  Paucibacillary Leprosy + 3
                  borderline leprosy 0
                  indeterminate leprosy 0
                  lepromatous leprosy 4
                  tuberculoid leprosy 2
paths to the root