Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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


show annotations for term's descendants           Sort by:
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:16960810 PMID:17357087 PMID:17440703 PMID:18805785 PMID:20799324 More... NCBI chr13:31,159,849...31,178,716
Ensembl chr13:31,159,843...31,178,715 		JBrowse link
G TREX1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Chilblain lupus ClinVar PMID:16960810 PMID:17357087 PMID:17440703 PMID:18805785 PMID:20799324 More... NCBI chr13:31,177,604...31,180,764
Ensembl chr13:31,179,291...31,180,747 		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:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chr13:31,159,849...31,178,716
Ensembl chr13:31,159,843...31,178,715 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27566796 NCBI chr17:40,117,348...40,171,935
Ensembl chr17:40,107,462...40,171,878 		JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27566796 NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198 		JBrowse link
G TREX1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Chilblain lupus 1 OMIM
ClinVar		 PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chr13:31,177,604...31,180,764
Ensembl chr13:31,179,291...31,180,747 		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 | ClinVar Annotator: match by term: SAMHD1-related condition OMIM
ClinVar		 PMID:19525956 PMID:20653736 PMID:21204240 PMID:22461318 PMID:22691373 More... NCBI chr17:40,117,348...40,171,935
Ensembl chr17:40,107,462...40,171,878 		JBrowse link
G TLDC2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Chilblain lupus 2 | ClinVar Annotator: match by term: SAMHD1-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr17:40,105,500...40,118,743
Ensembl chr17:40,109,210...40,120,399 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    sensory system disease 6506
      skin disease 3704
        cutaneous lupus erythematosus 13
          Chilblain lupus 5
            Chilblain Lupus 1 4
            Chilblain Lupus 2 2
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      Immune & Inflammatory Diseases 4951
        immune system disease 4288
          primary immunodeficiency disease 3700
            autoimmune disease 1971
              autoimmune disease of musculoskeletal system 888
                lupus erythematosus 202
                  cutaneous lupus erythematosus 13
                    Chilblain lupus 5
                      Chilblain Lupus 1 4
                      Chilblain Lupus 2 2
paths to the root