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: Cold Injury
Accession: DOID:9001959
browse the term
Definition: A physical injury caused by exposure of the body to extremely low ambient temperatures that may lead to loss of body parts, or in extreme cases, death. Examples of cold injury are FROSTBITE and CHILBLAINS.
Synonyms: exact_synonym: Cold Injuries
primary_id: MESH:D000067390 ; RDO:0016026
For additional species annotation, visit the
Alliance of Genome Resources .
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 chr 8:117,797,954...117,811,989
Ensembl chr 8:117,797,842...117,811,975
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Samhd1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27566796
NCBI chr 3:153,210,829...153,250,705
Ensembl chr 3:153,210,829...153,250,641
G
Sting1
stimulator of interferon response cGAMP interactor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27566796
NCBI chr18:28,529,537...28,535,828
Ensembl chr18:28,529,576...28,535,828
G
Trex1
three prime repair exonuclease 1
ISO
ClinVar Annotator: match by term: Chilblain lupus 1 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:610448
OMIM ClinVar CTD
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:27566796 PMID:28492532
NCBI chr 8:117,796,127...117,797,427
Ensembl chr 8:117,796,128...117,797,427
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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 PMID:22973040 PMID:24033266 PMID:25604658 PMID:25741868 PMID:26467025 PMID:27604406 PMID:28229507 PMID:28492532 PMID:30275001
NCBI chr 3:153,210,829...153,250,705
Ensembl chr 3:153,210,829...153,250,641
G
Tldc2
TBC/LysM-associated domain containing 2
ISO
ClinVar Annotator: match by term: Chilblain lupus 2
ClinVar
NCBI chr 3:153,195,295...153,208,118
Ensembl chr 3:153,197,644...153,207,816
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