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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
 primary_id: OMIM:614415
For additional species annotation, visit the Alliance of Genome Resources.


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
ClinVar		 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 20988
    Wounds and Injuries 936
      Frostbite 5
        Chilblains 5
          Chilblain Lupus 2 2
Path 2
Term Annotations click to browse term
  disease 20988
    disease of anatomical entity 18178
      Immune & Inflammatory Diseases 5897
        immune system disease 5108
          primary immunodeficiency disease 4504
            autoimmune disease 2514
              autoimmune disease of musculoskeletal system 984
                lupus erythematosus 213
                  cutaneous lupus erythematosus 15
                    Chilblain lupus 5
                      Chilblain Lupus 2 2
paths to the root