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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 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:21402907 PMID:22461318 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 15436
    Wounds and Injuries 956
      Frostbite 5
        Chilblains 5
          Chilblain Lupus 2 2
Path 2
Term Annotations click to browse term
  disease 15436
    disease of anatomical entity 15105
      Immune & Inflammatory Diseases 5140
        immune system disease 4593
          primary immunodeficiency disease 4038
            autoimmune disease 2032
              autoimmune disease of musculoskeletal system 897
                lupus erythematosus 205
                  cutaneous lupus erythematosus 13
                    Chilblain lupus 5
                      Chilblain Lupus 2 2
paths to the root