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
Accession: DOID:1024
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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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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