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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:Hyperthermia
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Accession:DOID:9006553 term browser browse the term
Definition:An abnormal elevation of body temperature, usually as a result of inability to regulate core body temperature due to non-pathologic factors. (MESH)
Synonyms:exact_synonym: Hyperpyrexia;   Hyperpyrexias
 primary_id: MESH:D000084462


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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
contractures, pterygia, and spondylocarpotarsal fusion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Pterygium universale
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 More... NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482 		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: Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1A
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:18470895 PMID:25741868 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 Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar 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 ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:25741868 PMID:28492532 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: Autosomal recessive multiple pterygium syndrome ClinVar PMID:15704180 PMID:16199547 PMID:16826520 PMID:16826531 PMID:22167768 More... NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482 		JBrowse link
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:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:25741870 More... NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992 		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 susceptibility ISO ClinVar Annotator: match by term: King Denborough syndrome | ClinVar Annotator: match by term: King syndrome ClinVar
OMIM		 PMID:16940 PMID:18253 PMID:18564 PMID:1329581 PMID:1510267 More... NCBI chr 1:84,292,578...84,423,824
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 Cacna1s calcium voltage-gated channel subunit alpha1 S ISO ClinVar Annotator: match by term: Pharmacogenic myopathy ClinVar PMID:20861472 PMID:24033266 PMID:24055113 PMID:24195946 PMID:24784157 More... NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Pharmacogenic myopathy
ClinVar Annotator: match by term: Fulminating hyperpyrexia | ClinVar Annotator: match by term: Pharmacogenic myopathy		 ClinVar PMID:12434 PMID:16940 PMID:18253 PMID:18564 PMID:1256913 More... NCBI chr 1:84,292,578...84,423,824
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 Asph aspartate-beta-hydroxylase ISO ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia ClinVar NCBI chr 5:22,601,581...22,814,107
Ensembl chr 5:22,603,486...22,813,876 		JBrowse link
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO DNA,protein:missense mutation:cds:p.R1086H (human)
ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5
ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5		 ClinVar
OMIM
CTD
RGD		 PMID:1982519 PMID:3037387 PMID:7847370 PMID:7987325 PMID:8004673 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 Casq1 calsequestrin 1 ISO RGD PMID:19237502 RGD:329813080 NCBI chr13:84,670,648...84,680,339
Ensembl chr13:84,670,649...84,680,339 		JBrowse link
G Ryr1 ryanodine receptor 1 susceptibility
treatment		 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5
ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5
ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5
ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1
ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5
ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1
ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1		 CTD
OMIM
ClinVar
MouseDO
RGD		 PMID:12434 PMID:16940 PMID:18253 PMID:18564 PMID:1256913 More... RGD:329812001, RGD:329812000, RGD:329811997 NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia ClinVar PMID:25741868 NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:6287911 PMID:7619526 PMID:7863154 PMID:9158151 PMID:9221765 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome		 OMIM
CTD
ClinVar		 PMID:8872460 PMID:9536098 PMID:11435464 PMID:11782989 PMID:16199547 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome		 OMIM
CTD
ClinVar		 PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 More... NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482 		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: Bailey-Bloch congenital myopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:66,760,163...66,842,126
Ensembl chr 4:66,760,159...66,842,110 		JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy 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: Bailey-Bloch congenital myopathy | ClinVar Annotator: match by term: CONGENITAL MYOPATHY 13 | ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23736855 PMID:25741868 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 18969
    Wounds and Injuries 980
      Heat Stress Disorders 40
        Hyperthermia 14
          malignant hyperthermia + 13
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Body Temperature Changes 107
          Hyperthermia 14
            malignant hyperthermia + 13
paths to the root