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: Hypothermia
Accession: DOID:9002395
browse the term
Definition: Lower than normal body temperature, especially in warm-blooded animals.
Synonyms: exact_synonym: Accidental Hypothermia; Accidental Hypothermias; Hypothermias
primary_id: MESH:D007035
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BCL2
BCL2 apoptosis regulator
ISO
mRNA:increased expression:prostate gland ventral lobe (rat)
RGD
PMID:25996932
RGD:10402397
NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895
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BTK
Bruton tyrosine kinase
exacerbates
ISO
Associated with Endotoxemia; with Itk knockout
RGD
PMID:26581914
RGD:11533169
NCBI chr X:89,690,569...89,727,420
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CCL20
C-C motif chemokine ligand 20
ISO
RGD
PMID:16469832
RGD:2311385
NCBI chr10:113,815,099...113,836,562
Ensembl chr10:113,832,573...113,835,736
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CHRNB2
cholinergic receptor nicotinic beta 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14982698
NCBI chr20:9,245,803...9,255,430
Ensembl chr20:9,247,231...9,253,795
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CIRBP
cold inducible RNA binding protein
severity
ISO
RGD
PMID:31271215
RGD:329961299
NCBI chr 6:1,037,389...1,043,265
Ensembl chr 6:1,039,401...1,042,187
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CNR1
cannabinoid receptor 1
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:9888857 PMID:27149200 PMID:27535976 PMID:31877572
NCBI chr13:12,626,259...12,653,253
Ensembl chr13:12,630,270...12,631,688
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CXCL10
C-X-C motif chemokine ligand 10
ISO
RGD
PMID:16469832
RGD:2311385
NCBI chr 7:24,526,657...24,529,193
Ensembl chr 7:24,526,680...24,529,130
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FASLG
Fas ligand
ISO
associated with Brain Ischemia
RGD
PMID:18410517
RGD:2311437
NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251
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GCG
glucagon
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:10464538
NCBI chr10:47,550,097...47,560,610
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GNRH1
gonadotropin releasing hormone 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6350720
NCBI chr 8:23,543,717...23,550,728
Ensembl chr 8:23,542,806...23,547,771
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HCRT
hypocretin neuropeptide precursor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26799708
NCBI chr16:64,083,199...64,085,393
Ensembl chr16:64,084,070...64,085,292
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HSF1
heat shock transcription factor 1
ISO
mRNA:increased expression:prostate gland ventral lobe (rat)
RGD
PMID:25996932
RGD:10402397
NCBI chr 8:138,503,836...138,529,562
Ensembl chr 8:138,503,831...138,529,165
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IL12A
interleukin 12A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16369138
NCBI chr15:30,887,048...30,896,577
Ensembl chr15:30,887,897...30,894,550
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IL12B
interleukin 12B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16369138
NCBI chr23:61,714,293...61,731,835
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LHB
luteinizing hormone subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6350720
NCBI chr 6:42,247,254...42,248,822
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LOC103247057
acyl-CoA synthetase short chain family member 1
ISO
RGD
PMID:19187775
RGD:13831305
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MDM2
MDM2 proto-oncogene
ISO
associated with Reperfusion Injury; protein:increased expression:hippocampus (rat)
RGD
PMID:15777295
RGD:2317393
NCBI chr11:64,434,203...64,465,490
Ensembl chr11:64,434,261...64,469,890
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NCF1
neutrophil cytosolic factor 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:30366073
NCBI chr28:8,334,172...8,349,828
Ensembl chr28:8,332,772...8,349,804
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NOS2
nitric oxide synthase 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24675228
NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257
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OPRD1
opioid receptor delta 1
ISO
mRNA:increased expression:hypothalamus
RGD
PMID:21377399
RGD:401901086
NCBI chr20:103,950,505...104,002,459
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PPBP
pro-platelet basic protein
ISO
protein:increased expression:plasma
RGD
PMID:31237986
RGD:401794437
NCBI chr 7:22,470,670...22,471,841
Ensembl chr 7:22,470,573...22,471,809
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PRKCD
protein kinase C delta
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:30366073
NCBI chr22:14,561,401...14,592,877
Ensembl chr22:14,565,282...14,592,873
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SELP
selectin P
ISO
protein:increased expression: red pulp of spleen
RGD
PMID:31237986
RGD:401794437
NCBI chr25:59,420,910...59,465,140
Ensembl chr25:59,433,333...59,462,598
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SOD1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11731100
NCBI chr 2:60,461,219...60,472,999
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16369138 PMID:34942311
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TRH
thyrotropin releasing hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6350720
NCBI chr22:51,075,814...51,079,852
Ensembl chr22:51,076,157...51,078,236
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TSHB
thyroid stimulating hormone subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6350720
NCBI chr20:18,660,683...18,665,226
Ensembl chr20:18,657,535...18,665,185
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TTR
transthyretin
ISO
mRNA:decreased expression:frontal cortex
RGD
PMID:21377399
RGD:401901086
NCBI chr18:49,124,302...49,131,495
Ensembl chr18:49,124,121...49,131,399
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VWF
von Willebrand factor
ISO
mRNA,protein:increased expression:spleen
RGD
PMID:31237986
RGD:401794437
NCBI chr11:5,994,499...6,176,949
Ensembl chr11:5,994,039...6,162,260
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ZFP91
ZFP91 zinc finger protein, atypical E3 ubiquitin ligase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:34942311
NCBI chr 1:14,733,279...14,776,333
Ensembl chr 1:14,735,662...14,776,167
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RYR1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Malignant hypothermia
ClinVar
PMID:14732627 PMID:16163667 PMID:16732084 PMID:16917943 PMID:18253926 PMID:18414213 PMID:19191329 PMID:19191333 PMID:20839240 PMID:20981092 PMID:21455645 PMID:21503806 PMID:21674524 PMID:22913516 PMID:22995991 PMID:23183335 PMID:23204524 PMID:23329375 PMID:23558838 PMID:23628358 PMID:24195946 PMID:25735680 PMID:25741868 PMID:25957634 PMID:26467025 PMID:26994242 PMID:27153395 PMID:28003660 PMID:28492532 PMID:30122538 PMID:30611313 PMID:30724636 PMID:32236737 PMID:33333461 PMID:33458582 More...
NCBI chr 6:33,080,443...33,234,478
Ensembl chr 6:33,080,758...33,213,788
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