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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 2
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Accession:DOID:9004067 term browser browse the term
Synonyms:exact_synonym: CHBL2
 broad_synonym: SAMHD1-RELATED CONDITION
 primary_id: MIM:614415


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Chilblain Lupus 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130065805 ATAC-STARR-seq lymphoblastoid silent region 12883 IAGP ClinVar Annotator: match by term: Chilblain lupus 2 ClinVar PMID:25741868 NCBI chr20:36,951,203...36,951,422 JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP ClinVar Annotator: match by term: SAMHD1-related condition
ClinVar Annotator: match by term: Chilblain lupus 2
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:21402907 PMID:22461318 More... NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G TLDC2 TBC/LysM-associated domain containing 2 IAGP ClinVar Annotator: match by term: Chilblain lupus 2
ClinVar Annotator: match by term: SAMHD1-related condition		 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:36,876,121...36,894,235
Ensembl chr20:36,876,121...36,894,235 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 145369
    Wounds and Injuries 1706
      Frostbite 7
        Chilblains 7
          Chilblain Lupus 2 3
Path 2
Term Annotations click to browse term
  disease 145369
    disease of anatomical entity 132557
      Immune & Inflammatory Diseases 27359
        immune system disease 23205
          primary immunodeficiency disease 17469
            autoimmune disease 13419
              autoimmune disease of musculoskeletal system 8450
                lupus erythematosus 1724
                  cutaneous lupus erythematosus 33
                    Chilblain lupus 7
                      Chilblain Lupus 2 3
paths to the root