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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. (DO)
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 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.


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: Hyperpyrexia, malignant
ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1
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: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:9138151 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:12937085 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:16521288 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: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:23069638 PMID:23127960 PMID:23159934 PMID:23183335 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:25683120 PMID:25735680 PMID:25741868 PMID:25747005 PMID:25957634 PMID:25958340 PMID:25960145 PMID:25985138 PMID:25989378 PMID:26068069 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:30325262 PMID:30329129 PMID:30499100 PMID:30611313 PMID:30724636 PMID:30788618 PMID:31016048 PMID:31055738 PMID:31135626 PMID:31559918 PMID:31680349 PMID:32054689 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 Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1A
ClinVar
OMIM
PMID:18470895 PMID:25741868 PMID:25957469 PMID:27381093 PMID:29314551 PMID:29805041 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:16084090 PMID:16917943 PMID:18253926 PMID:18765655 PMID:19191329 PMID:19191333 PMID:20839240 PMID:21062345 PMID:22992668 PMID:23553484 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: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:9138151 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:12937085 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:16521288 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: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:23069638 PMID:23127960 PMID:23159934 PMID:23183335 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:25611019 PMID:25637381 PMID:25658027 PMID:25683120 PMID:25735680 PMID:25741868 PMID:25747005 PMID:25957634 PMID:25958340 PMID:25960145 PMID:25985138 PMID:25989378 PMID:26068069 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:30325262 PMID:30499100 PMID:30611313 PMID:30724636 PMID:30788618 PMID:31016048 PMID:31055738 PMID:31135626 PMID:31559918 PMID:31680349 PMID:32054689 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: 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 PMID:24254455 PMID:25326635 PMID:25608830 PMID:25741868 PMID:25957469 PMID:26578207 PMID:26752647 PMID:27245440 PMID:28492532 PMID:31680349 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 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:31680349 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 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 NCBI chr 4:65,736,585...65,821,916
Ensembl chr 4:65,736,585...65,818,521
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 PMID:25741868 PMID:27896077 PMID:28492532 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Stac3 SH3 and cysteine rich domain 3 ISO 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 16123
    Pathological Conditions, Signs and Symptoms 8840
      Pathologic Processes 6201
        Intraoperative Complications 12
          malignant hyperthermia 11
            Congenital Contractures, Torticollis, and Malignant Hyperthermia 0
            King Denborough Syndrome 1
            Malignant Fever 1
            Native American myopathy 3
            multiple pterygium syndrome + 4
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        peripheral nervous system disease 2430
          neuropathy 2245
            neuromuscular disease 1766
              muscular disease 1168
                muscle tissue disease 790
                  malignant hyperthermia 11
                    Congenital Contractures, Torticollis, and Malignant Hyperthermia 0
                    King Denborough Syndrome 1
                    Malignant Fever 1
                    Native American myopathy 3
                    multiple pterygium syndrome + 4
paths to the root