Frostbite - Ontology Report - Rat Genome Database

	Submit Data \| Help \| Video Tutorials \| News \| Publications \| Download \| REST API \| Citing RGD \| Contact
	Search RGD Grant Resources Citing RGD About Us Contact Us Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner VCMap Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease Find Models new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive Pathways Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
	Advanced Search (OLGA)

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	go back to main search page
Accession:	DOID:9006668	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:

Rat (5) Mouse (6) Human (58) Chinchilla (5) Bonobo (5) Dog (5) Squirrel (5) Pig (5) All
Genes (5)

Chilblain Lupus 1

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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 3:48,368,775...48,387,698
Ensembl chr 3:49,450,991...49,469,351

SAMHD1

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

ISO

CTD Direct Evidence: marker/mechanism

CTD

PMID:27566796

NCBI chr20:33,224,200...33,282,018
Ensembl chr20:34,341,367...34,398,314

STING1

stimulator of interferon response cGAMP interactor 1

ISO

CTD Direct Evidence: marker/mechanism

CTD

PMID:27566796

NCBI chr 5:134,845,689...134,852,938
Ensembl chr 5:140,967,399...140,973,846

TREX1

three prime repair exonuclease 1

ISO

OMIM

NCBI chr 3:48,387,762...48,389,693
Ensembl chr 3:49,470,222...49,471,331

Chilblain Lupus 2