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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
 primary_id: RDO:9004981
 xref: OMIM:PS610448;   ORDO:90280
For additional species annotation, visit the Alliance of Genome Resources.


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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 ISO ClinVar Annotator: match by term: Chilblain Lupus ClinVar PMID:23602593 PMID:24183309 PMID:25582466 PMID:25741868 PMID:28492532 NCBI chr 8:117,797,954...117,811,989
Ensembl chr 8:117,797,842...117,811,975
JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISS OMIM:610448 | OMIM:614415 MouseDO NCBI chr 3:153,210,829...153,250,705
Ensembl chr 3:153,210,829...153,250,641
JBrowse link
G Trex1 three prime repair exonuclease 1 ISS
ISO
OMIM:610448 | OMIM:614415
ClinVar Annotator: match by term: Chilblain Lupus
MouseDO
ClinVar
PMID:23602593 PMID:24183309 PMID:25582466 PMID:25741868 PMID:28492532 NCBI chr 8:117,796,127...117,797,427
Ensembl chr 8:117,796,128...117,797,427
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 ISO ClinVar Annotator: match by term: Chilblain lupus 1 ClinVar PMID:16960810 PMID:17357087 PMID:17440703 PMID:18805785 PMID:20799324 PMID:20871604 PMID:21808053 PMID:22829693 PMID:23602593 PMID:23989343 PMID:24183309 PMID:25582466 PMID:25741868 PMID:25848017 PMID:28492532 NCBI chr 8:117,797,954...117,811,989
Ensembl chr 8:117,797,842...117,811,975
JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27566796 NCBI chr 3:153,210,829...153,250,705
Ensembl chr 3:153,210,829...153,250,641
JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27566796 NCBI chr18:28,529,537...28,535,828
Ensembl chr18:28,529,576...28,535,828
JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Chilblain lupus 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:610448
OMIM
ClinVar
CTD
PMID:16960810 PMID:17357087 PMID:17440703 PMID:18805785 PMID:20799324 PMID:20871604 PMID:21808053 PMID:22829693 PMID:23602593 PMID:23989343 PMID:24183309 PMID:25582466 PMID:25741868 PMID:25848017 PMID:27566796 PMID:28492532 NCBI chr 8:117,796,127...117,797,427
Ensembl chr 8:117,796,128...117,797,427
JBrowse link
Chilblain Lupus 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Chilblain lupus 2 OMIM
ClinVar
PMID:19525956 PMID:20653736 PMID:21204240 PMID:22461318 PMID:22691373 PMID:22973040 PMID:24033266 PMID:25604658 PMID:25741868 PMID:26467025 PMID:27604406 PMID:28229507 PMID:28492532 PMID:30275001 NCBI chr 3:153,210,829...153,250,705
Ensembl chr 3:153,210,829...153,250,641
JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Chilblain lupus 2 ClinVar NCBI chr 3:153,195,295...153,208,118
Ensembl chr 3:153,197,644...153,207,816
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    sensory system disease 5176
      skin disease 2714
        cutaneous lupus erythematosus 15
          Chilblain lupus 5
            Chilblain Lupus 1 4
            Chilblain Lupus 2 2
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Immune & Inflammatory Diseases 3578
        immune system disease 2948
          primary immunodeficiency disease 2364
            autoimmune disease 1683
              autoimmune disease of musculoskeletal system 936
                lupus erythematosus 206
                  cutaneous lupus erythematosus 15
                    Chilblain lupus 5
                      Chilblain Lupus 1 4
                      Chilblain Lupus 2 2
paths to the root