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ONTOLOGY REPORT - ANNOTATIONS


Term:malignant hyperthermia
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Accession:DOID:8545 term browser browse the term
Definition:Rapid and excessive rise of temperature accompanied by muscular rigidity following general anesthesia.
Synonyms:exact_synonym: MHS;   MHS1;   MHS2;   MHS3;   MHS4;   MHS5;   MHS6;   anesthesia hyperthermia;   anesthesia hyperthermias;   anesthesia related hyperthermia;   anesthesia related hyperthermias;   hyperthermia of anesthesia;   malignant hyperpyrexia;   malignant hyperpyrexia due to anesthesia;   malignant hyperpyrexias;   malignant hyperthermia equivocal with halothane;   malignant hyperthermias
 narrow_synonym: KING-DENBOROUGH SYNDROME;   MH King syndrome;   Malignant hyperthermia and exertional rhabdomyolosis
 related_synonym: 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;   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
 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;   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 JBrowse Chr Start Stop Reference
G Cacna1s calcium voltage-gated channel subunit alpha1 S JBrowse link 13 52,889,570 52,964,558 RGD:1300373
RGD:11554173
RGD:7240710
RGD:8554872
G Cacng1 calcium voltage-gated channel auxiliary subunit gamma 1 JBrowse link 10 95,921,479 95,934,170 RGD:734675
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
RGD:11554173
RGD:7240710
Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872
RGD:7240710
King Denborough Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
multiple pterygium syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link 3 60,445,657 60,460,724 RGD:8554872
RGD:13592920
G Chrnd cholinergic receptor nicotinic delta subunit JBrowse link 9 94,286,550 94,294,968 RGD:8554872
RGD:13592920
G Chrng cholinergic receptor nicotinic gamma subunit JBrowse link 9 94,302,218 94,308,591 RGD:7240710
RGD:8554872
RGD:11554173
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:13592920
Multiple Pterygium Syndrome, Lethal Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link 3 60,445,657 60,460,724 RGD:7240710
RGD:8554872
G Chrnd cholinergic receptor nicotinic delta subunit JBrowse link 9 94,286,550 94,294,968 RGD:7240710
RGD:8554872
G Chrng cholinergic receptor nicotinic gamma subunit JBrowse link 9 94,302,218 94,308,591 RGD:7240710
RGD:8554872
Native American myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stac3 SH3 and cysteine rich domain 3 JBrowse link 7 70,807,427 70,815,271 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    Pathological Conditions, Signs and Symptoms 8034
      Pathologic Processes 5088
        Postoperative Complications 719
          malignant hyperthermia 8
            Congenital Contractures, Torticollis, and Malignant Hyperthermia 0
            King Denborough Syndrome 1
            Malignant Fever 0
            Native American myopathy 1
            multiple pterygium syndrome + 4
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        peripheral nervous system disease 2127
          neuropathy 1950
            neuromuscular disease 1522
              muscular disease 959
                muscle tissue disease 685
                  malignant hyperthermia 8
                    Congenital Contractures, Torticollis, and Malignant Hyperthermia 0
                    King Denborough Syndrome 1
                    Malignant Fever 0
                    Native American myopathy 1
                    multiple pterygium syndrome + 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.