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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:malignant hyperthermia
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Accession:DOID:8545 term browser browse the term
Definition:A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). (DO)
Synonyms:exact_synonym: MALIGNANT HYPERTHERMIA OF ANESTHESIA;   MHS;   anesthesia hyperthermia;   anesthesia hyperthermias;   anesthesia related hyperthermia;   anesthesia related hyperthermias;   malignant hyperpyrexia;   malignant hyperpyrexia due to anesthesia;   malignant hyperpyrexias;   malignant hyperthermia equivocal with halothane;   malignant hyperthermias
 narrow_synonym: EXERCISE-INDUCED MALIGNANT HYPERTHERMIA;   KING-DENBOROUGH SYNDROME;   MH King syndrome;   Malignant hyperthermia and exertional rhabdomyolosis;   hyperthermia of anesthesia
 related_synonym: MHS1;   MHS2;   MHS3;   MHS4;   MHS5;   MHS6;   malignant hyperpyrexia susceptibility type 2;   malignant hyperpyrexia susceptibility type 3;   malignant hyperpyrexia susceptibility type 4;   malignant hyperpyrexia susceptibility type 5;   malignant hyperpyrexia susceptibility type 6;   malignant hyperthermia susceptibility;   malignant hyperthermia susceptibility type 1;   malignant hyperthermia susceptibility type 2;   malignant hyperthermia susceptibility type 3;   malignant hyperthermia susceptibility type 4;   malignant hyperthermia susceptibility type 5;   malignant hyperthermia susceptibility type 6;   malignant hyperthermia, susceptibility to, 1;   malignant hyperthermia, susceptibility to, 2;   malignant hyperthermia, susceptibility to, 3;   malignant hyperthermia, susceptibility to, 4;   malignant hyperthermia, susceptibility to, 5;   malignant hyperthermia, susceptibility to, 6
 primary_id: MESH:D008305
 alt_id: MESH:C535694;   MESH:C535695;   MESH:C535696;   MESH:C535697;   MESH:C535698;   MESH:C535699;   OMIA:000621;   OMIM:145600;   OMIM:154275;   OMIM:154276;   OMIM:600467;   OMIM:601887;   OMIM:601888
 xref: GARD:6964;   ICD10CM:T88.3;   ICD9CM:995.86;   NCI:C84869;   OMIM:PS145600;   ORDO:423
For additional species annotation, visit the Alliance of Genome Resources.


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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 4:71,902,891...72,107,047
Ensembl chr 4:71,903,318...72,107,044 		JBrowse link
G CACNA1S calcium voltage-gated channel subunit alpha1 S ISO 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 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: 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: 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
OMIM		 PMID:1982519 PMID:3037387 PMID:7847370 PMID:7987325 PMID:8004673 More... NCBI chr10:23,503,701...23,567,797
Ensembl chr10:23,502,898...23,568,058 		JBrowse link
G CACNG1 calcium voltage-gated channel auxiliary subunit gamma 1 ISO RGD PMID:8395940 RGD:734675 NCBI chr12:13,462,589...13,481,651
Ensembl chr12:13,463,058...13,481,645 		JBrowse link
G CASQ1 calsequestrin 1 ISO RGD PMID:19237502 RGD:329813080 NCBI chr 4:90,276,752...90,288,990
Ensembl chr 4:90,276,757...90,288,250 		JBrowse link
G RYR1 ryanodine receptor 1 susceptibility
treatment		 ISO
IAGP		 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
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
OMIM
RGD
OMIA		 PMID:12434 PMID:16940 PMID:18253 PMID:18564 PMID:435338 More... RGD:329812000 RGD:329812001 NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458 		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 chr12:49,676,536...49,709,634
Ensembl chr12:49,677,291...49,713,977 		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 OMIM
ClinVar		 PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 More... NCBI chr15:133,051,668...133,059,935
Ensembl chr15:133,052,031...133,058,544 		JBrowse link
G LOC110261337 tigger transposable element-derived protein 1-like ISO ClinVar Annotator: match by term: Pterygium universale ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:63,122,856...63,151,009 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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:18470895 PMID:25741868 More... NCBI chr12:55,351,152...55,373,236
Ensembl chr12:55,347,087...55,375,353 		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 chr15:80,673,072...80,692,256
Ensembl chr15:80,673,067...80,692,208 		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 chr15:133,040,310...133,047,839
Ensembl chr15:133,040,340...133,048,829 		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 chr15:133,051,668...133,059,935
Ensembl chr15:133,052,031...133,058,544 		JBrowse link
G LOC110261337 tigger transposable element-derived protein 1-like ISO ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:16826520 PMID:25741868 PMID:28492532 PMID:31354645 NCBI chr 6:63,122,856...63,151,009 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 chr12:55,351,152...55,373,236
Ensembl chr12:55,347,087...55,375,353 		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 OMIM
ClinVar		 PMID:16940 PMID:18253 PMID:18564 PMID:1329581 PMID:1510267 More... NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458 		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 chr10:23,503,701...23,567,797
Ensembl chr10:23,502,898...23,568,058 		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 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458 		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:9158151 PMID:9221765 More... NCBI chr15:80,673,072...80,692,256
Ensembl chr15:80,673,067...80,692,208 		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:16199547 More... NCBI chr15:133,040,310...133,047,839
Ensembl chr15:133,040,340...133,048,829 		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:24254455 More... NCBI chr15:133,051,668...133,059,935
Ensembl chr15:133,052,031...133,058,544 		JBrowse link
G LOC110261337 tigger transposable element-derived protein 1-like ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:63,122,856...63,151,009 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 chr18:10,868,208...10,966,801
Ensembl chr18:10,919,422...10,966,410 		JBrowse link
G INSR insulin receptor ISO ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia ClinVar PMID:2040394 PMID:8432414 PMID:8900242 PMID:10084586 PMID:11463381 More... NCBI chr 2:71,797,209...71,939,923
Ensembl chr 2:71,797,204...71,936,104 		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 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23736855 PMID:25741868 More... NCBI chr 5:22,549,008...22,556,330
Ensembl chr 5:22,549,010...22,719,054 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    Pathological Conditions, Signs and Symptoms 11801
      Pathologic Processes 7351
        Intraoperative Complications 14
          malignant hyperthermia 14
            Congenital Contractures, Torticollis, and Malignant Hyperthermia 0
            King Denborough syndrome 1
            Malignant Fever 2
            Native American myopathy 3
            contractures, pterygia, and spondylocarpotarsal fusion syndrome + 5
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        peripheral nervous system disease 3991
          neuropathy 3800
            neuromuscular disease 2980
              muscular disease 2091
                muscle tissue disease 1265
                  malignant hyperthermia 14
                    Congenital Contractures, Torticollis, and Malignant Hyperthermia 0
                    King Denborough syndrome 1
                    Malignant Fever 2
                    Native American myopathy 3
                    contractures, pterygia, and spondylocarpotarsal fusion syndrome + 5
paths to the root