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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 1
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Accession:DOID:9005881 term browser browse the term
Synonyms:exact_synonym: CHBL1;   Chilblain lupus
 related_synonym: chilbain lupus 1
 primary_id: MESH:C535924
 alt_id: OMIM:610448;   RDO:0001294
For additional species annotation, visit the Alliance of Genome Resources.


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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Wounds and Injuries 855
      Frostbite 5
        Chilblains 5
          Chilblain Lupus 1 4
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Immune & Inflammatory Diseases 3585
        immune system disease 2954
          primary immunodeficiency disease 2373
            autoimmune disease 1693
              autoimmune disease of musculoskeletal system 942
                lupus erythematosus 206
                  cutaneous lupus erythematosus 15
                    Chilblain lupus 5
                      Chilblain Lupus 1 4
paths to the root