Send us a Message

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


RGD uses the Human Disease Ontology (DO, 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 2
go back to main search page
Accession:DOID:9004067 term browser browse the term
Synonyms:exact_synonym: CHBL2
 primary_id: OMIM:614415

show annotations for term's descendants           Sort by:
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
PMID:19525956 PMID:20653736 PMID:21204240 PMID:22461318 PMID:22691373 More... NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Chilblain lupus 2 ClinVar PMID:25741868 NCBI chr 3:145,742,381...145,758,847
Ensembl chr 3:145,743,619...145,758,741
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    Wounds and Injuries 943
      Frostbite 5
        Chilblains 5
          Chilblain Lupus 2 2
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      Immune & Inflammatory Diseases 5520
        immune system disease 4735
          primary immunodeficiency disease 4108
            autoimmune disease 2293
              autoimmune disease of musculoskeletal system 991
                lupus erythematosus 214
                  cutaneous lupus erythematosus 15
                    Chilblain lupus 5
                      Chilblain Lupus 2 2
paths to the root