Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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: MIM:610448



show annotations for term's descendants           Sort by:
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 chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477
JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27566796 NCBI chr 3:166,179,742...166,214,448
Ensembl chr 3:145,761,558...145,794,386
JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27566796 NCBI chr18:27,606,196...27,612,544
Ensembl chr18:27,332,119...27,338,335
JBrowse link
G Trex1 three prime repair exonuclease 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chilblain lupus 1
CTD
ClinVar
OMIM
PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chr 8:118,585,082...118,586,382
Ensembl chr 8:109,706,613...109,708,796
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    Wounds and Injuries 998
      Frostbite 5
        Chilblains 5
          Chilblain Lupus 1 4
Path 2
Term Annotations click to browse term
  disease 19142
    disease of anatomical entity 18455
      Immune & Inflammatory Diseases 5753
        immune system disease 5035
          primary immunodeficiency disease 4438
            autoimmune disease 2376
              autoimmune disease of musculoskeletal system 1003
                lupus erythematosus 217
                  cutaneous lupus erythematosus 15
                    Chilblain lupus 5
                      Chilblain Lupus 1 4
paths to the root