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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:Frostbite
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Accession:DOID:9006668 term browser browse the term
Definition:Damage to tissues as the result of low environmental temperatures.
Synonyms:exact_synonym: Frostbites
 primary_id: MESH:D005627;   RDO:0005190
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Chilblain Lupus 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRIP ATR interacting protein ISO ClinVar Annotator: match by term: Chilblain lupus 1 ClinVar PMID:16960810 PMID:17357087 PMID:17440703 PMID:18805785 PMID:20799324 PMID:20871604 PMID:21808053 PMID:22829693 PMID:23602593 PMID:23989343 PMID:24183309 PMID:25582466 PMID:25741868 PMID:25848017 PMID:28492532 NCBI chr13:31,159,849...31,178,716
Ensembl chr13:31,159,843...31,179,098
JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27566796 NCBI chr17:40,117,348...40,171,935
Ensembl chr17:40,112,978...40,171,895
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27566796 NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198
JBrowse link
G TREX1 three prime repair exonuclease 1 ISO OMIM NCBI chr13:31,177,604...31,180,764
Ensembl chr13:31,178,601...31,180,592
JBrowse link
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 OMIM NCBI chr17:40,117,348...40,171,935
Ensembl chr17:40,112,978...40,171,895
JBrowse link
G TLDC2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Chilblain lupus 2 ClinVar 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 13426
    Wounds and Injuries 824
      Frostbite 5
        Chilblains + 5
Path 2
Term Annotations click to browse term
  disease 13426
    Wounds and Injuries 824
      Cold Injury 5
        Frostbite 5
          Chilblains + 5
paths to the root