Disease browser and phenotype portal

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MSeqDR-LSDB
Tools
- Quick-Mitome for WES
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- mtDNA Tool:
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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Intraoperative Complications (D007431)
Parent Node: Postoperative Complications (D011183)
..Starting node ..Malignant Hyperthermia (D008305)
Child Nodes:
........Contractures, Congenital, Torticollis, and Malignant Hyperthermia (C565679)
........King Denborough syndrome (C536883)
........Malignant fever (C531737)
........Malignant hyperthermia susceptibility type 1 (C535694)
........Malignant hyperthermia susceptibility type 2 (C535695)
........Malignant hyperthermia susceptibility type 3 (C535696)
........Malignant hyperthermia susceptibility type 4 (C535697)
........Malignant hyperthermia susceptibility type 5 (C535698)
........Malignant hyperthermia susceptibility type 6 (C535699)
........Multiple pterygium syndrome (C537377) 1
........Native American myopathy (C538343)
Sister Nodes:
..Afferent Loop Syndrome (D000343)
..Anastomotic Leak (D057868)
..Corneal Endothelial Cell Loss (D055954)
..Coronary-Subclavian Steal Syndrome (D058686)
..Delayed Emergence from Anesthesia (D055191)
..Failed Back Surgery Syndrome (D055111)
..Gas bloat syndrome (C535647)
..Graft Occlusion, Vascular (D006083)
..Malignant Hyperthermia (D008305) 12
..Pain, Postoperative (D010149) 1
..Postcholecystectomy Syndrome (D017562)
..Postgastrectomy Syndromes (D011178) 1
..Postoperative Hemorrhage (D019106) 1
..Postoperative Nausea and Vomiting (D020250)
..Postpericardiotomy Syndrome (D011185)
..Prosthesis Failure (D011475) 1
..Prosthesis-Related Infections (D016459)
..Reperfusion Injury (D015427) 2
..Shock, Surgical (D012773)
..Short Bowel Syndrome (D012778)
..Slit Ventricle Syndrome (D056124)
..Surgical Wound Dehiscence (D013529)
..Surgical Wound Infection (D013530)
..Vasoplegia (D056987)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6736
Name:	Malignant Hyperthermia
Definition:	Rapid and excessive rise of temperature accompanied by muscular rigidity following general anesthesia.
Alternative IDs:
ParentIDs:	MESH:D007431\|MESH:D011183
TreeNumbers:	C23.550.505.700 \|C23.550.767.600
Synonyms:	Anesthesia Hyperthermia \|Anesthesia Hyperthermias \|Anesthesia Related Hyperthermia \|Anesthesia Related Hyperthermias \|Hyperpyrexia, Malignant \|Hyperpyrexias, Malignant \|Hyperthermia, Anesthesia Related \|Hyperthermia, Malignant \|Hyperthermia of Anesthesia \|Hyperth
Slim Mappings:	Pathology (process)
Reference:	MedGen: D008305 MeSH: D008305 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants