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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 chrNW_004624842:2,591,016...2,649,746
Ensembl chrNW_004624842:2,591,148...2,647,742 		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 chrNW_004624842:2,649,943...2,668,957
Ensembl chrNW_004624842:2,626,897...2,668,822 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14231
    Wounds and Injuries 894
      Frostbite 5
        Chilblains 5
          Chilblain Lupus 2 2
Path 2
Term Annotations click to browse term
  disease 14231
    disease of anatomical entity 13933
      Immune & Inflammatory Diseases 4775
        immune system disease 4277
          primary immunodeficiency disease 3753
            autoimmune disease 1903
              autoimmune disease of musculoskeletal system 844
                lupus erythematosus 193
                  cutaneous lupus erythematosus 13
                    Chilblain lupus 5
                      Chilblain Lupus 2 2
paths to the root