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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:Rapid and excessive rise of temperature accompanied by muscular rigidity following general anesthesia.
Synonyms:exact_synonym: MHS;   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: MHS1;   MHS2;   MHS3;   MHS4;   MHS5;   MHS6;   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 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 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.


show annotations for term's descendants           Sort by:
 
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
ClinVar Annotator: match by term: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant hyperthermia susceptibility type 5
ClinVar
CTD
OMIM
PMID:1982519, PMID:9199552, PMID:11260227, PMID:19825159, PMID:20861472, PMID:22547813, PMID:22992668, PMID:23662824, PMID:24033266, PMID:24055113, PMID:24195946, PMID:24784157, PMID:25132214, PMID:25637381, PMID:25735680, PMID:25741868, PMID:26332594, PMID:26467025, PMID:27147545, PMID:28011884, PMID:28326467, PMID:28492532, PMID:29193480, PMID:29212769, PMID:9199552 RGD:1300373 NCBI chr13:52,889,570...52,964,558
Ensembl chr13:52,889,737...52,964,155
JBrowse link
G Cacng1 calcium voltage-gated channel auxiliary subunit gamma 1 ISO RGD PMID:8395940 RGD:734675 NCBI chr10:95,921,479...95,934,170
Ensembl chr10:95,921,174...95,934,345
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
ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1
ClinVar Annotator: match by term: Hyperpyrexia, malignant
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:1329581, PMID:1354642, PMID:1510267, PMID:1639409, PMID:1743490, PMID:1774073, PMID:1774074, PMID:1862346, PMID:4149045, PMID:7511586, PMID:7547049, PMID:7554356, PMID:7586638, PMID:7633940, PMID:7751854, PMID:7762556, PMID:7829078, PMID:7849712, PMID:7881417, PMID:7889656, PMID:8012359, PMID:8220423, PMID:8401544, PMID:8592342, PMID:8602662, PMID:8661021, PMID:8825043, PMID:8828983, PMID:8902717, PMID:9030597, PMID:9106529, PMID:9199552, PMID:9334205, PMID:9389851, PMID:9450902, PMID:9497245, PMID:9520251, PMID:9543323, PMID:9831351, PMID:9873004, PMID:10051009, PMID:10097181, PMID:10352931, PMID:10484775, PMID:10612851, PMID:10700782, PMID:10793526, PMID:10888602, PMID:11063719, PMID:11274444, PMID:11448278, PMID:11493496, PMID:11524458, PMID:11525881, PMID:11553045, PMID:11575529, PMID:11668625, PMID:11695996, PMID:11709545, PMID:11741831, PMID:12059893, PMID:12066726, PMID:12123492, PMID:12124989, PMID:12136074, PMID:12151923, PMID:12208234, PMID:12220451, PMID:12237752, PMID:12411786, PMID:12411788, PMID:12434264, PMID:12565913, PMID:12642598, PMID:12700608, PMID:12709367, PMID:12732639, PMID:14500992, PMID:14570802, PMID:14708096, PMID:14732627, PMID:14985404, PMID:14999498, PMID:15175001, PMID:15210166, PMID:15221887, PMID:15281512, PMID:15448513, PMID:15731587, PMID:16084090, PMID:16163667, PMID:16244001, PMID:16272262, PMID:16284304, PMID:16372898, PMID:16380615, PMID:16621918, PMID:16732084, PMID:16732090, PMID:16732128, PMID:16835904, PMID:16917943, PMID:16940308, PMID:16958617, PMID:17033962, PMID:17081152, PMID:17122579, PMID:17204937, PMID:17226826, PMID:17365175, PMID:17483490, PMID:17538032, PMID:17667581, PMID:17707769, PMID:17710899, PMID:18171678, PMID:18253926, PMID:18414213, PMID:18502356, PMID:18564801, PMID:18719443, PMID:18765655, PMID:18813041, PMID:18945287, PMID:19015156, PMID:19020143, PMID:19191329, PMID:19191333, PMID:19223216, PMID:19346234, PMID:19513315, PMID:19645060, PMID:19648156, PMID:19807743, PMID:19825159, PMID:19919814, PMID:19931341, PMID:20080402, PMID:20142353, PMID:20301325, PMID:20439600, PMID:20583297, PMID:20681998, PMID:20839240, PMID:20888934, PMID:20981092, PMID:21062345, PMID:21156754, PMID:21157159, PMID:21455645, PMID:21485675, PMID:21514828, PMID:21674524, PMID:21795085, PMID:21804810, PMID:21825032, PMID:21878807, PMID:21911697, PMID:21918424, PMID:21965348, PMID:22203976, PMID:22415532, PMID:22473935, PMID:22526018, PMID:22705209, PMID:22734812, PMID:22913516, PMID:22992668, PMID:22995991, PMID:23035052, PMID:23127960, PMID:23159934, PMID:23204524, PMID:23329375, PMID:23394784, PMID:23459219, PMID:23460944, PMID:23476141, PMID:23553484, PMID:23553787, PMID:23558838, PMID:23628358, PMID:23826317, PMID:23842196, PMID:23919265, PMID:24013571, PMID:24033266, PMID:24055113, PMID:24088041, PMID:24091937, PMID:24195946, PMID:24215330, PMID:24319099, PMID:24361844, PMID:24433488, PMID:24561095, PMID:24627108, PMID:24706162, PMID:24950660, PMID:24951453, PMID:25084811, PMID:25214167, PMID:25256590, PMID:25268394, PMID:25326635, PMID:25356970, PMID:25461839, PMID:25466363, PMID:25476234, PMID:25521991, PMID:25558065, PMID:25611019, PMID:25637381, PMID:25658027, PMID:25735680, PMID:25741868, PMID:25747005, PMID:25957634, PMID:25958340, PMID:25960145, PMID:25985138, PMID:25989378, PMID:26332594, PMID:26467025, PMID:26578207, PMID:26633545, PMID:26951757, PMID:26994242, PMID:27005958, PMID:27058611, PMID:27147545, PMID:27153395, PMID:27382027, PMID:27555149, PMID:27586648, PMID:27646467, PMID:27663056, PMID:27854218, PMID:27857962, PMID:28063098, PMID:28224104, PMID:28259615, PMID:28326467, PMID:28403410, PMID:28492532, PMID:28527222, PMID:28687594, PMID:28818389, PMID:29101530, PMID:29169929, PMID:29172004, PMID:29178655, PMID:29382405, PMID:29608462, PMID:29635721, PMID:30122538, PMID:30155738, PMID:30236257, PMID:30311386, PMID:30325262, PMID:30329129, PMID:30499100, PMID:30611313, PMID:30724636, PMID:30788618, PMID:31016048, PMID:31055738, PMID:31135626 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr  X:157,129,987...157,139,321
Ensembl chr  X:157,129,987...157,139,291
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
OMIM
PMID:18470895, PMID:25741868, PMID:25957469, PMID:27381093, PMID:29314551, PMID:29805041, PMID:30311386 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
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 VARIABLE SKELETAL FUSIONS SYNDROME 1B OMIM
ClinVar
PMID:29805041 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
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 ClinVar Annotator: match by term: King Denborough syndrome
ClinVar Annotator: match by term: King syndrome
ClinVar PMID:4149045, PMID:8661021, PMID:9199552, PMID:16084090, PMID:16163667, PMID:16380615, PMID:16917943, PMID:18253926, PMID:18765655, PMID:19191329, PMID:19191333, PMID:20583297, PMID:20839240, PMID:21062345, PMID:22992668, PMID:23394784, PMID:23553484, PMID:23919265, PMID:25741868, PMID:26578207, PMID:27646467, PMID:28492532, PMID:30155738, PMID:30236257 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
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:1329581, PMID:1354642, PMID:1510267, PMID:1639409, PMID:1743490, PMID:1774073, PMID:1774074, PMID:1862346, PMID:4149045, PMID:7511586, PMID:7547049, PMID:7554356, PMID:7586638, PMID:7633940, PMID:7751854, PMID:7762556, PMID:7829078, PMID:7849712, PMID:7881417, PMID:7889656, PMID:8012359, PMID:8220423, PMID:8401544, PMID:8592342, PMID:8602662, PMID:8661021, PMID:8825043, PMID:8828983, PMID:8902717, PMID:9030597, PMID:9106529, PMID:9199552, PMID:9334205, PMID:9389851, PMID:9450902, PMID:9497245, PMID:9520251, PMID:9543323, PMID:9831351, PMID:9873004, PMID:10051009, PMID:10097181, PMID:10352931, PMID:10484775, PMID:10612851, PMID:10700782, PMID:10793526, PMID:10888602, PMID:11063719, PMID:11274444, PMID:11448278, PMID:11493496, PMID:11524458, PMID:11525881, PMID:11553045, PMID:11575529, PMID:11668625, PMID:11709545, PMID:11741831, PMID:12059893, PMID:12123492, PMID:12124989, PMID:12136074, PMID:12151923, PMID:12208234, PMID:12220451, PMID:12237752, PMID:12411786, PMID:12411788, PMID:12434264, PMID:12565913, PMID:12642598, PMID:12700608, PMID:12709367, PMID:12732639, PMID:14500992, PMID:14732627, PMID:14985404, PMID:15175001, PMID:15210166, PMID:15221887, PMID:15281512, PMID:15448513, PMID:15731587, PMID:16084090, PMID:16163667, PMID:16244001, PMID:16272262, PMID:16284304, PMID:16372898, PMID:16380615, PMID:16621918, PMID:16732084, PMID:16732090, PMID:16732128, PMID:16835904, PMID:16917943, PMID:16940308, PMID:16958617, PMID:17033962, PMID:17081152, PMID:17122579, PMID:17204937, PMID:17226826, PMID:17483490, PMID:17538032, PMID:17667581, PMID:17710899, PMID:18171678, PMID:18253926, PMID:18414213, PMID:18502356, PMID:18564801, PMID:18719443, PMID:18765655, PMID:18813041, PMID:18945287, PMID:19015156, PMID:19020143, PMID:19191329, PMID:19191333, PMID:19223216, PMID:19346234, PMID:19513315, PMID:19645060, PMID:19648156, PMID:19807743, PMID:19825159, PMID:19919814, PMID:19931341, PMID:20080402, PMID:20142353, PMID:20301325, PMID:20439600, PMID:20583297, PMID:20681998, PMID:20839240, PMID:20888934, PMID:20981092, PMID:21062345, PMID:21156754, PMID:21157159, PMID:21455645, PMID:21514828, PMID:21674524, PMID:21795085, PMID:21804810, PMID:21825032, PMID:21878807, PMID:21911697, PMID:21918424, PMID:21965348, PMID:22203976, PMID:22415532, PMID:22473935, PMID:22526018, PMID:22705209, PMID:22734812, PMID:22913516, PMID:22992668, PMID:22995991, PMID:23127960, PMID:23159934, PMID:23204524, PMID:23329375, PMID:23394784, PMID:23459219, PMID:23460944, PMID:23476141, PMID:23553484, PMID:23553787, PMID:23558838, PMID:23628358, PMID:23826317, PMID:23842196, PMID:23919265, PMID:24013571, PMID:24033266, PMID:24055113, PMID:24088041, PMID:24091937, PMID:24195946, PMID:24215330, PMID:24319099, PMID:24361844, PMID:24433488, PMID:24561095, PMID:24627108, PMID:24950660, PMID:24951453, PMID:25084811, PMID:25214167, PMID:25256590, PMID:25268394, PMID:25326635, PMID:25461839, PMID:25466363, PMID:25476234, PMID:25521991, PMID:25558065, PMID:25637381, PMID:25658027, PMID:25735680, PMID:25741868, PMID:25747005, PMID:25957634, PMID:25958340, PMID:25960145, PMID:25985138, PMID:25989378, PMID:26332594, PMID:26467025, PMID:26578207, PMID:26633545, PMID:26951757, PMID:26994242, PMID:27005958, PMID:27058611, PMID:27147545, PMID:27153395, PMID:27382027, PMID:27555149, PMID:27586648, PMID:27646467, PMID:27663056, PMID:27854218, PMID:27857962, PMID:28063098, PMID:28224104, PMID:28259615, PMID:28326467, PMID:28403410, PMID:28492532, PMID:28527222, PMID:28687594, PMID:28818389, PMID:29101530, PMID:29169929, PMID:29172004, PMID:29178655, PMID:29382405, PMID:29635721, PMID:30122538, PMID:30155738, PMID:30236257, PMID:30311386, PMID:30325262, PMID:30499100, PMID:30611313, PMID:30724636, PMID:30788618, PMID:31016048, PMID:31055738, PMID:31135626 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
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
OMIM:178110 | OMIM:253290 | OMIM:265000 | OMIM:312150
ClinVar
MouseDO
PMID:25741868 NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
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 9:94,286,550...94,294,968
Ensembl chr 9:94,286,550...94,294,968
JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
ClinVar Annotator: match by term: Pterygium universale
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, PMID:24254455, PMID:25326635, PMID:25608830, PMID:25741868, PMID:25957469, PMID:26578207, PMID:26752647, PMID:27245440, PMID:28492532, PMID:30311386 NCBI chr 9:94,302,218...94,308,591 JBrowse link
G Myh3 myosin heavy chain 3 ISS OMIM:178110 | OMIM:253290 | OMIM:265000 | OMIM:312150 MouseDO NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
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, PMID:14719537, PMID:15907919, PMID:18252226, PMID:18806275, PMID:22728938, PMID:24121633, PMID:25450229, PMID:25741868, PMID:26467025, PMID:27748205, PMID:28492532, PMID:29054425, PMID:29395675 NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar
PMID:8872460, PMID:11435464, PMID:11782989, PMID:18252226, PMID:18414213, PMID:23108489, PMID:25264167, PMID:25741868, PMID:26467025, PMID:26578207, PMID:28024842, PMID:28492532, PMID:30311386 NCBI chr 9:94,286,550...94,294,968
Ensembl chr 9:94,286,550...94,294,968
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, PMID:25741868, PMID:25957469, PMID:26752647, PMID:27245440, PMID:28492532, PMID:30311386 NCBI chr 9:94,302,218...94,308,591 JBrowse link
Native American myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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:23736855, PMID:25741868, PMID:28411587, PMID:28492532, PMID:28777491, PMID:30168660, PMID:31219695 NCBI chr 7:70,807,427...70,815,271
Ensembl chr 7:70,807,867...70,815,270
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Pathological Conditions, Signs and Symptoms 8723
      Pathologic Processes 6127
        Postoperative Complications 731
          malignant hyperthermia 9
            Congenital Contractures, Torticollis, and Malignant Hyperthermia 0
            King Denborough Syndrome 1
            Malignant Fever 1
            Native American myopathy 1
            multiple pterygium syndrome + 4
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              muscular disease 1196
                muscle tissue disease 809
                  malignant hyperthermia 9
                    Congenital Contractures, Torticollis, and Malignant Hyperthermia 0
                    King Denborough Syndrome 1
                    Malignant Fever 1
                    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.