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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:Chilblain lupus
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Accession:DOID:0060386 term browser browse the term
Definition:A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene. (DO)
Synonyms:exact_synonym: CHILBLAIN LUPUS ERYTHEMATOSUS
 xref: OMIM:PS610448;   ORDO:90280



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Chilblain lupus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: Chilblain lupus ClinVar PMID:16960810 PMID:17357087 PMID:17440703 PMID:18805785 PMID:20799324 More... NCBI chr 3:48,446,779...48,467,645
Ensembl chr 3:48,446,710...48,467,645
JBrowse link
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: Chilblain lupus ClinVar PMID:16960810 PMID:17357087 PMID:17440703 PMID:18805785 PMID:20799324 More... NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645
JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP ClinVar Annotator: match by term: Chilblain lupus ClinVar PMID:16960810 PMID:17357087 PMID:17440703 PMID:18805785 PMID:20799324 More... NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
Chilblain Lupus 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: Chilblain lupus 1 ClinVar PMID:16845398 PMID:17660818 PMID:20131292 PMID:21270825 PMID:23602593 More... NCBI chr 3:48,446,779...48,467,645
Ensembl chr 3:48,446,710...48,467,645
JBrowse link
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: Chilblain lupus 1 ClinVar PMID:16845398 PMID:17660818 PMID:20131292 PMID:21270825 PMID:23602593 More... NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645
JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27566796 NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27566796 NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
JBrowse link
G TREX1 three prime repair exonuclease 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chilblain lupus 1
CTD
ClinVar
OMIM
PMID:16845398 PMID:17660818 PMID:20131292 PMID:21270825 PMID:23602593 More... NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
Chilblain Lupus 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130065805 ATAC-STARR-seq lymphoblastoid silent region 12883 IAGP ClinVar Annotator: match by term: Chilblain lupus 2 ClinVar PMID:25741868 NCBI chr20:36,951,203...36,951,422 JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP
EXP
ClinVar Annotator: match by term: SAMHD1-related condition
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chilblain lupus 2
OMIM
ClinVar
CTD
PMID:19525956 PMID:20653736 PMID:21204240 PMID:22461318 PMID:22691373 More... NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893
JBrowse link
G TLDC2 TBC/LysM-associated domain containing 2 IAGP ClinVar Annotator: match by term: Chilblain lupus 2 ClinVar PMID:25741868 NCBI chr20:36,876,121...36,894,235
Ensembl chr20:36,876,121...36,894,235
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40760
    sensory system disease 9679
      skin disease 4862
        cutaneous lupus erythematosus 18
          Chilblain lupus 7
            Chilblain Lupus 1 5
            Chilblain Lupus 2 3
Path 2
Term Annotations click to browse term
  disease 40760
    disease of anatomical entity 32068
      Immune & Inflammatory Diseases 6721
        immune system disease 5885
          primary immunodeficiency disease 5012
            autoimmune disease 2533
              autoimmune disease of musculoskeletal system 1027
                lupus erythematosus 224
                  cutaneous lupus erythematosus 18
                    Chilblain lupus 7
                      Chilblain Lupus 1 5
                      Chilblain Lupus 2 3
paths to the root