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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:Heat Stress Disorders
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Accession:DOID:9001103 term browser browse the term
Definition:A group of conditions that develop due to overexposure or overexertion in excessive environmental heat.
Synonyms:exact_synonym: Heat Cramp;   Heat Cramps;   Heat Stress Disorder;   Heat Stress Syndrome;   Heat Stress Syndromes
 primary_id: MESH:D018882;   RDO:0005733
For additional species annotation, visit the Alliance of Genome Resources.



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Heat Stress Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadvl acyl-CoA dehydrogenase, very long chain IEP associated with Endotoxemia RGD PMID:17374454 RGD:8553966 NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A ISO CTD Direct Evidence: therapeutic CTD PMID:16627676
G Il6 interleukin 6 IEP mRNA:increased expression:liver (rat) RGD PMID:23993269 RGD:11060279 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 8
ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1A
ClinVar
OMIM
PMID:18470895 PMID:25741868 PMID:25957469 PMID:27381093 PMID:29314551 More... NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
JBrowse link
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B
ClinVar Annotator: match by term: CONTRACTURES, PTERYGIA, AND VARIABLE SKELETAL FUSIONS SYNDROME 1B
OMIM
ClinVar
PMID:25741870 PMID:29805041 NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
JBrowse link
Heat Stroke term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpl alkaline phosphatase, biomineralization associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:16878031 NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
JBrowse link
G Becn1 beclin 1 IEP protein:increased expression:cerebral cortex RGD PMID:20823696 RGD:6483077 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:24039931 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
JBrowse link
G Hmgb1 high mobility group box 1 treatment IEP RGD PMID:20047080 RGD:10402179 NCBI chr12:5,973,062...5,978,565 JBrowse link
G Hsf1 heat shock transcription factor 1 treatment IDA RGD PMID:23219797 RGD:10402774 NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011
JBrowse link
G Hspa4 heat shock protein family A (Hsp70) member 4 IMP RGD PMID:22245947 RGD:5686871 NCBI chr10:37,408,025...37,449,080
Ensembl chr10:37,408,025...37,449,001
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24039931 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24039931 NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
JBrowse link
G Il1a interleukin 1 alpha IEP
ISO
protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:24039931 PMID:19295493 RGD:6907071 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il1b interleukin 1 beta treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:24039931 PMID:10970434 RGD:12902613 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24039931 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Il6r interleukin 6 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24039931 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:24039931 NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24039931 NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24039931 NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213
JBrowse link
G Nos1 nitric oxide synthase 1 IEP RGD PMID:16950411 RGD:1642129 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa treatment ISO RGD PMID:16715032 RGD:11250411 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
JBrowse link
G Rel REL proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:24039931 NCBI chr14:97,690,105...97,721,194
Ensembl chr14:97,695,161...97,720,892
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:24039931 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
JBrowse link
G Relb RELB proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:24039931 NCBI chr 1:79,257,738...79,285,490
Ensembl chr 1:79,257,725...79,285,507
JBrowse link
G Serpinc1 serpin family C member 1 treatment ISO associated with Inflammation RGD PMID:20047080 RGD:10402179 NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
JBrowse link
G Thbd thrombomodulin ISO RGD PMID:20160670 RGD:5684987 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16878031 PMID:24039931 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
Hyperthermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:34082047 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
King Denborough syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr1 ryanodine receptor 1 ISO
ISS
ClinVar Annotator: match by term: King Denborough syndrome
ClinVar Annotator: match by term: King syndrome
OMIM:145600
ClinVar
MouseDO
PMID:18564 PMID:4149045 PMID:8661021 PMID:9199552 PMID:9497245 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
Malignant Fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Pharmacogenic myopathy ClinVar PMID:18564 PMID:1256913 PMID:1329581 PMID:1354642 PMID:1510267 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
malignant hyperthermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1s calcium voltage-gated channel subunit alpha1 S susceptibility ISO DNA,protein:missense mutation:cds:p.R1086H (human)
ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5
ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5
ClinVar Annotator: match by term: Malignant hyperthermia susceptibility
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:1982519 PMID:9536098 PMID:11260227 PMID:17576681 PMID:19825159 More... RGD:1300373 NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318
JBrowse link
G Cacng1 calcium voltage-gated channel auxiliary subunit gamma 1 ISO RGD PMID:8395940 RGD:734675 NCBI chr10:92,652,924...92,665,612
Ensembl chr10:92,652,614...92,665,783
JBrowse link
G Ryr1 ryanodine receptor 1 susceptibility ISO ClinVar Annotator: match by term: Malignant hyperthermia
ClinVar Annotator: match by term: Malignant hyperpyrexia
ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1
ClinVar Annotator: match by term: Hyperpyrexia, malignant
ClinVar Annotator: match by term: Malignant hyperthermia susceptibility
ClinVar Annotator: match by term: Anesthesia related hyperthermia
ClinVar Annotator: match by term: HYPERTHERMIA OF ANESTHESIA
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant hyperthermia and exertional rhabdomyolosis
ClinVar
CTD
OMIM
PMID:18564 PMID:1256913 PMID:1329581 PMID:1354642 PMID:1510267 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
multiple pterygium syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO
ISS
ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
ClinVar Annotator: match by term: Pterygium universale
OMIM:178110 | OMIM:253290 | OMIM:265000 | OMIM:312150
ClinVar
MouseDO
PMID:25741868 PMID:28492532 NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840
JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO
ISS
ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
OMIM:178110 | OMIM:253290 | OMIM:265000 | OMIM:312150
ClinVar
MouseDO
PMID:25741868 NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Pterygium universale
ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
ClinVar Annotator: match by term: Multiple pterygium syndrome Escobar type
ClinVar Annotator: match by OMIM:265000
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15704180 PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 More... NCBI chr 9:87,878,085...87,884,193 JBrowse link
G Myh3 myosin heavy chain 3 ISS OMIM:178110 | OMIM:253290 | OMIM:265000 | OMIM:312150 MouseDO NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
JBrowse link
Multiple Pterygium Syndrome, Lethal Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar
PMID:6287911 PMID:7619526 PMID:7863154 PMID:8872460 PMID:9158151 More... NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840
JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar
PMID:8872460 PMID:9536098 PMID:11435464 PMID:11782989 PMID:16916845 More... NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar
PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:25608830 More... NCBI chr 9:87,878,085...87,884,193 JBrowse link
G Prss56 serine protease 56 ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:19526372 PMID:21532570 PMID:24033266 PMID:28492532 NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978
JBrowse link
Native American myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a4 ATPase H+ transporting V0 subunit a4 ISO ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:66,760,159...66,842,110
Ensembl chr 4:66,760,159...66,842,110
JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA ClinVar PMID:2040394 PMID:8432414 PMID:8900242 PMID:10084586 PMID:11463381 More... NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
JBrowse link
G Stac3 SH3 and cysteine rich domain 3 ISO ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA
ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia
ClinVar Annotator: match by term: Native American myopathy
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:23736855 PMID:25741868 PMID:28411587 More... NCBI chr 7:63,343,078...63,350,590
Ensembl chr 7:63,343,186...63,350,589
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Wounds and Injuries 872
      Heat Stress Disorders 37
        Heat Exhaustion 0
        Heat Stroke + 23
        Hyperthermia + 12
paths to the root