MCID: MLG086
MIFTS: 44

Malignant Hyperthermia Susceptibility malady

Summaries for Malignant Hyperthermia Susceptibility

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19GeneReviews, 32MalaCards
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MalaCards: Malignant Hyperthermia Susceptibility, also known as malignant hyperpyrexia due to anesthesia, is related to malignant hyperthermia and myopathy. An important gene associated with Malignant Hyperthermia Susceptibility is RYR1 (ryanodine receptor 1 (skeletal)), and among its related pathways are Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels and Celecoxib Pathway, Pharmacodynamics. The drugs dantrolene and dantrolene sodium and the compounds nisoldipine and fluspirilene have been mentioned in the context of this disorder. Affiliated tissues include testes, skeletal muscle and liver, and related mouse phenotypes are digestive/alimentary and adipose tissue.

GeneReviews summary for mhs

Aliases & Classifications for Malignant Hyperthermia Susceptibility

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60UMLS, 19GeneReviews, 20GeneTests, 22GTR
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Aliases & Descriptions:

malignant hyperthermia susceptibility 19 20 22
malignant hyperpyrexia due to anesthesia 60
malignant hyperpyrexia 19


Related Diseases for Malignant Hyperthermia Susceptibility

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17GeneCards, 18GeneDecks
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Diseases in the Malignant Hyperthermia Susceptibility Type 1 family:

malignant hyperthermia susceptibility 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
Ryr1-Related Malignant Hyperthermia Susceptibility Mhs2-Related Malignant Hyperthermia Susceptibility
Mhs3-Related Malignant Hyperthermia Susceptibility Mhs4-Related Malignant Hyperthermia Susceptibility
Cacna1s-Related Malignant Hyperthermia Susceptibility Mhs6-Related Malignant Hyperthermia Susceptibility

Diseases related to Malignant Hyperthermia Susceptibility via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1malignant hyperthermia31.9CACNA1S, CACNG1, SCN4A, PIK3C2A, RYR1
2myopathy30.8CPT2, PIK3C2A, SCN4A, CACNA1S, RYR1
3central core myopathy30.5CACNA1S, RYR1
4neuroleptic malignant syndrome30.4PIK3C2A
5muscular dystrophy30.2SRL, PIK3C2A, CAV1
6malignant hyperthermia susceptibility type 110.5
7malignant hyperthermia susceptibility type 210.5
8malignant hyperthermia susceptibility type 310.5
9malignant hyperthermia susceptibility type 410.5
10malignant hyperthermia susceptibility type 510.5
11malignant hyperthermia susceptibility type 610.4
12ryr1-related malignant hyperthermia susceptibility10.3
13mhs2-related malignant hyperthermia susceptibility10.3
14mhs3-related malignant hyperthermia susceptibility10.3
15mhs4-related malignant hyperthermia susceptibility10.3
16cacna1s-related malignant hyperthermia susceptibility10.3
17mhs6-related malignant hyperthermia susceptibility10.3
18neuronitis10.1
19osteogenesis imperfecta10.1
20motor neuron disease10.1
21placenta praevia10.1
22mitochondrial disorders10.1
23multiminicore disease10.1
24king denborough syndrome10.1
25neuroblastoma10.0NME1
26myasthenia gravis10.0RYR1
27hyperkalemic periodic paralysis10.0SCN4A
28hyperuricemia10.0PIK3C2A
29coronary stenosis10.0HTR2A
30myotonic dystrophy10.0PIK3C2A, RYR1
31hypokalemic periodic paralysis10.0CACNA1S, SCN4A, RYR1
32myositis10.0PIK3C2A, RYR1
33hypokalemia10.0SCN4A, PIK3C2A, CACNA1S
34cystic fibrosis10.0ANXA6, CAV1, HTR2A
35dilated cardiomyopathy10.0RYR1, CPT2, CALR, PIK3C2A
36respiratory failure10.0IL6, PIK3C2A, RYR1
37insulin resistance10.0HTR2A, IL6, CPT2
38congenital heart defect10.0PIK3C2A, RYR1, HTR2A
39diabetes mellitus10.0IL6, PIK3C2A, CALR
40alzheimer's disease10.0ANXA6, RYR1, HTR2A, CALR, CAV1, IL6

Graphical network of the top 20 diseases related to Malignant Hyperthermia Susceptibility:



Diseases related to malignant hyperthermia susceptibility

Clinical Features for Malignant Hyperthermia Susceptibility

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Drugs & Therapeutics for Malignant Hyperthermia Susceptibility

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Malignant Hyperthermia Susceptibility

Drug clinical trials:

Search ClinicalTrials for Malignant Hyperthermia Susceptibility

Search NIH Clinical Center for Malignant Hyperthermia Susceptibility

Search CenterWatch for Malignant Hyperthermia Susceptibility

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Malignant Hyperthermia Susceptibility

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20GeneTests, 22GTR
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Genetic tests related to Malignant Hyperthermia Susceptibility:

id Genetic test Affiliating Genes
1 Malignant Hyperthermia Susceptibility20 22 RYR1

Anatomical Context for Malignant Hyperthermia Susceptibility

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32MalaCards
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MalaCards organs/tissues related to Malignant Hyperthermia Susceptibility:

32
Testes, Skeletal muscle, Liver, Placenta

Animal Models for Malignant Hyperthermia Susceptibility or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Malignant Hyperthermia Susceptibility:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.2ASPH, RYR1, IL6, HTR2A, CAV1, CACNA1S
2MP:00053758.7CACNA1S, CAV1, PIK3C2A, IL6, RYR1
3MP:00053858.0CACNA2D1, CAV1, CALR, ANXA6, IL6, RYR1
4MP:00053696.7ASPH, CACNA1S, CACNA2D1, CACNG1, CAV1, CALR

Publications for Malignant Hyperthermia Susceptibility

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50PubMed
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Articles related to Malignant Hyperthermia Susceptibility:

(show top 50)    (show all 243)
idTitleAuthorsYear
1
Core myopathies and malignant hyperthermia susceptibility: a review. (23617272)
2013
2
Using exome data to identify malignant hyperthermia susceptibility mutations. (24195946)
2013
3
Preparation of Datex-Ohmeda Aestiva and Aisys anaesthetic machines for use in malignant hyperthermia susceptible patients. (22577915)
2012
4
New device simplifies workstation preparation for malignant hyperthermia-susceptible patients. (21791993)
2011
5
Safety of exposure of malignant hyperthermia non-susceptible patients and their relatives to anaesthetic triggering agents. (21970134)
2011
6
Effects of theophylline on anesthetized malignant hyperthermia-susceptible pigs. (22131820)
2011
7
Sevoflurane as a potential replacement for halothane in diagnostic testing for malignant hyperthermia susceptibility: results of a preliminary study. (21730923)
2011
8
Preparation of modern anesthesia workstations for malignant hyperthermia-susceptible patients: a review of past and present practice. (21169802)
2011
9
Fluoroquinolones influence the intracellular calcium handling in individuals susceptible to malignant hyperthermia. (21607983)
2011
10
Store-operated Ca2+ entry in malignant hyperthermia-susceptible human skeletal muscle. (20566647)
2010
11
Effect of prior exercise on thermal sensitivity of malignant hyperthermia-susceptible muscle. (20544946)
2010
12
Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia. (18553514)
2008
13
Preparation of the DrAoger Fabius anesthesia machine for the malignant-hyperthermia susceptible patient. (19020141)
2008
14
An in-vivo metabolic test for detecting malignant hyperthermia susceptibility in humans: a pilot study. (18713904)
2008
15
Genetics and susceptibility to malignant hyperthermia. (19047693)
2008
16
DNA analysis and malignant hyperthermia susceptibility. (18564791)
2008
17
No carnitine palmitoyltransferase deficiency in skeletal muscle in 18 malignant hyperthermia susceptible individuals. (18430572)
2008
18
Recurrent postoperative deep vein thrombosis in a patient with obstructive sleep apnea and malignant hyperthermia susceptibility. (18056220)
2007
19
Can we prevent malignant hyperthermia after hypothermic cardiopulmonary bypass in a malignant hyperthermia-susceptible patient? (17179280)
2007
20
The dose-response relationship and regional distribution of lactate after intramuscular injection of halothane and caffeine in malignant hyperthermia-susceptible pigs. (16428544)
2006
21
Mg2+ dependence of Ca2+ release from the sarcoplasmic reticulum induced by sevoflurane or halothane in skeletal muscle from humans susceptible to malignant hyperthermia. (16849381)
2006
22
Malignant hyperthermia: update on susceptibility testing. (15956637)
2005
23
Orthotopic liver transplantation in a malignant hyperthermia susceptible patient. (16297758)
2005
24
Enhanced response to caffeine and 4-chloro-m-cresol in malignant hyperthermia-susceptible muscle is related in part to chronically elevated resting [Ca2+]i. (15537710)
2005
25
Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and patients affected by central core disease. (15299003)
2004
26
Histomorphologic examination of skeletal muscle preparations does not differentiate between malignant hyperthermia-susceptible and -normal patients. (15087612)
2004
27
Diagnosis of malignant hyperthermia susceptibility during CABG surgery. (12631056)
2003
28
Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation. (12220451)
2002
29
The differential effect of halothane and 1,2-dichlorohexafluorocyclobutane on in vitro muscle contractures of patients susceptible to malignant hyperthermia. (11916818)
2002
30
Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia. (11573677)
2001
31
Malignant hyperthermia susceptibility revealed by myalgia and rhabdomyolysis during fluoroquinolone treatment. (11409139)
2001
32
Between-center variability of results of the in vitro contracture test for malignant hyperthermia susceptibility. (10910867)
2000
33
Anaesthesia for emergency caesarean section in a parturient with bleeding placenta praevia and a potentially malignant hyperthermia-susceptible fetus. (15321080)
2000
34
Comparison between the European and North American protocols for diagnosis of malignant hyperthermia susceptibility in humans. (10320187)
1999
35
A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees. (9175745)
1997
36
Comparison of the segregation of the RYR1 C184OT mutation with segregation of the caffeine/halothane contracture test results for malignant hyperthermia susceptibility in a large Manitoba Mennonite family. (8602659)
1996
37
Comparison of the segregation of the RYR1 C1840T mutation with segregation of the caffeine/halothane contracture test results for malignant hyperthermia susceptibility in a large Manitoba Mennonite family. (8602662)
1996
38
A clinical grading scale to predict malignant hyperthermia susceptibility. (8024130)
1994
39
Does postoperative pyrexia indicate malignant hyperthermia susceptibility? (1540466)
1992
40
Chronic myopathy in a patient suspected of carrying two malignant hyperthermia susceptibility (MHS) mutations. (1300187)
1992
41
Muscle biopsy for diagnosis of malignant hyperthermia susceptibility in two patients with severe exercise-induced myolysis. (1997050)
1991
42
Microassay for malignant hyperthermia susceptibility: hypersensitive ligand-gating of the Ca channel in muscle sarcoplasmic reticulum causes increased amounts and rates of Ca-release. (2158620)
1990
43
Canine stress syndrome/malignant hyperthermia susceptibility: calcium-homeostasis defect in muscle and lymphocytes. (2300706)
1990
44
Are myotonias and periodic paralyses associated with susceptibility to malignant hyperthermia? (2248848)
1990
45
Safety of general anesthesia in patients previously tested negative for malignant hyperthermia susceptibility. (2393153)
1990
46
Malignant hyperthermia susceptibility in neuroleptic malignant syndrome. (3605730)
1987
47
Erythrocyte osmotic fragility testing and the prediction of canine malignant hyperthermia susceptibility. (17422730)
1986
48
Halothane-succinylcholine induced masseter spasm: indicative of malignant hyperthermia susceptibility? (6731899)
1984
49
Dantrolene dose response in malignant hyperthermia-susceptible (MHS) swine: method to obtain prophylaxis and therapeusis. (7362049)
1980
50
The adenosine triphosphate (ATP) depletion test: comparison with the caffeine contracture test as a method of diagnosing malignant hyperthermia susceptibility. (990979)
1976

Genetic Variations for Malignant Hyperthermia Susceptibility

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Expression for genes affiliated with Malignant Hyperthermia Susceptibility

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Malignant Hyperthermia Susceptibility

Search GEO for disease gene expression data for Malignant Hyperthermia Susceptibility.

Pathways for genes affiliated with Malignant Hyperthermia Susceptibility

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53Reactome, 49PharmGKB, 51QIAGEN, 37NCBI BioSystems Database, 29KEGG, 12EMD Millipore
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Pathways related to Malignant Hyperthermia Susceptibility according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8CACNA2D1, CACNB1
29.6CACNB1, CACNA2D1, CACNA1S
3
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9.3CACNA1S, CACNA2D1, CACNG1, CACNB1
4
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9.3CACNA1S, CACNA2D1, CACNG1, CACNB1
5
Hide members
9.3CACNA1S, CACNA2D1, CACNG1, CACNB1
6
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9.3CACNA1S, CACNA2D1, CACNG1, CACNB1
79.3CACNB1, CACNG1, CACNA2D1, CACNA1S
8
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9.3CACNB1, CACNG1, CACNA2D1, CACNA1S
99.3CACNB1, CACNG1, CACNA2D1, CACNA1S
109.1RYR1, CACNB1, CACNG1, CACNA2D1, CACNA1S
11
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9.0CACNA1S, CACNA2D1, CACNG1, CALR, CACNB1
12
Development Ligand-independent activation of ESR1 and ESR2
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9.0CACNA1S, CACNA2D1, CACNG1, CAV1, CACNB1
13
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9.0CACNA1S, CACNA2D1, CACNG1, CAV1, CACNB1
14
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9.0CACNA1S, CACNA2D1, CACNG1, CACNB1, IL6
15
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9.0IL6, CACNB1, CACNG1, CACNA2D1, CACNA1S
16
Hide members
9.0CACNA1S, CACNA2D1, CACNG1, CACNB1, IL6
17
Hide members
9.0CACNA1S, CACNA2D1, CACNG1, CACNB1, IL6
188.9CACNA1S, CACNA2D1, CACNG1, CALR, CACNB1, RYR1
19
Hide members
8.8CACNA1S, CACNA2D1, CACNG1, CAV1, CACNB1, SCN4A
20
Hide members
8.8CACNA1S, CALR, CACNB1, ANXA6, IL6, RYR1
21
Hide members
8.6CACNA1S, CACNA2D1, CACNG1, CACNB1, SCN4A, IL6
22
Hide members
8.6CACNA1S, CACNA2D1, CACNG1, CACNB1, HTR2A, IL6

Compounds for genes affiliated with Malignant Hyperthermia Susceptibility

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44Novoseek, 28IUPHAR, 11DrugBank, 49PharmGKB, 24HMDB, 59Tocris Bioscience
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Compounds related to Malignant Hyperthermia Susceptibility according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
1nisoldipine44 28 1112.2CACNA1S, CACNA2D1
2fluspirilene28 44 1112.1CACNG1, HTR2A
3nilvadipine44 1111.0CACNA2D1, CACNA1S
4Magnesium Sulfate1110.0CACNG1, CACNA2D1, CACNA1S
5ibutilide44 1111.0CACNG1, CACNA2D1
6nitrendipine44 49 28 1113.0CACNA1S, CACNA2D1, CACNG1
7chloride449.9CAV1, CALR, SCN4A, RYR1
8succinylcholine44 28 1111.8RYR1, PIK3C2A, SCN4A
9histidine449.8NME1, SCN4A, CALR, CACNA1S
10halothane44 28 1111.8CALR, PIK3C2A, RYR1
11glyceraldehyde 3-phosphate449.7CALR, ANXA6, RYR1, NME1
12isradipine44 28 1111.7CACNA2D1, CACNA1S
13dantrolene44 28 1111.7PIK3C2A, RYR1
14verapamil44 49 28 11 2413.6CACNA1S, CACNG1, CAV1, CACNB1
15amlodipine44 49 11 2412.6CACNA1S, CACNA2D1, CACNG1, CACNB1
16pyruvate449.6CPT2, NME1, PIK3C2A, CALR
17fatty acid449.4CAV1, CALR, PIK3C2A, NME1, CPT2
18lactate449.3CPT2, NME1, IL6, PIK3C2A, CALR
19sodium44 2410.3CACNA1S, CAV1, CALR, SCN4A, PIK3C2A
20creatinine449.3CPT2, NME1, RYR1, IL6, PIK3C2A
21arginine449.2RYR1, PIK3C2A, SCN4A, CALR, CAV1, CACNA1S
22gtp44 2810.1NME1, ANXA6, PIK3C2A, CALR, CAV1
23ryanodine44 28 5911.1CACNA1S, CALR, ANXA6, RYR1, SRL, ASPH
24norepinephrine44 11 2411.1RYR1, IL6, PIK3C2A, HTR2A
25dihydropyridine448.9ASPH, CACNA1S, CALR, SCN4A, ANXA6, RYR1
26glucose448.9CPT2, RYR1, IL6, PIK3C2A, CALR, CAV1
27glutamate448.9CAV1, CALR, PIK3C2A, ANXA6, RYR1, CPT2
28lipid448.6CAV1, CALR, PIK3C2A, ANXA6, IL6, RYR1
29atp44 289.1CAV1, CALR, SCN4A, PIK3C2A, ANXA6, RYR1
30calcium44 49 11 249.6CACNB1, CALR, CAV1, CACNG1, CACNA2D1, CACNA1S

GO Terms for genes affiliated with Malignant Hyperthermia Susceptibility

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16Gene Ontology
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Cellular components related to Malignant Hyperthermia Susceptibility according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1junctional sarcoplasmic reticulum membraneGO:01470110.1ASPH, RYR1
2T-tubuleGO:0303159.5CACNA1S, CACNA2D1, CACNB1, RYR1
3sarcoplasmic reticulumGO:0165299.4CACNA1S, CACNA2D1, CACNB1, RYR1
4voltage-gated calcium channel complexGO:0058919.3CACNB1, CACNA1S, CACNA2D1, CACNG1
5sarcoplasmic reticulum lumenGO:0330189.2ASPH, SRL, CALR

Biological processes related to Malignant Hyperthermia Susceptibility according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1response to testosterone stimulusGO:03357410.1NME1, CALR
2response to caffeineGO:03100010.0RYR1, IL6
3positive regulation of calcium ion transport into cytosolGO:0105249.9ASPH, CAV1
4cellular calcium ion homeostasisGO:0068749.9CAV1, CALR, HTR2A
5cytosolic calcium ion homeostasisGO:0514809.8RYR1, CAV1
6muscle contractionGO:0069369.4CACNA1S, CACNG1, SCN4A, RYR1, ASPH
7calcium ion transportGO:0068169.3RYR1, ANXA6, CAV1, CACNA2D1, CACNA1S

Molecular functions related to Malignant Hyperthermia Susceptibility according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1high voltage-gated calcium channel activityGO:0083319.9CACNB1, CACNA1S
2voltage-gated calcium channel activityGO:0052458.8RYR1, CACNB1, CACNG1, CACNA2D1, CACNA1S

Products for genes affiliated with Malignant Hyperthermia Susceptibility

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Sources for Malignant Hyperthermia Susceptibility

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet