GS
MCID: GTL001
MIFTS: 54

Gitelman Syndrome (GS) malady

Nephrological, Metabolic, Genetic categories

Summaries for Gitelman Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Gitelman syndrome is a kidney condition that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium. signs and symptoms usually appear in late childhood or adolescence and vary widely. most affected individuals have relatively mild symptoms. common symptoms include painful muscle spasms (tetany), muscle weakness or cramping, dizziness, salt craving, and tingling or prickly sensations in the skin on the face (paresthesias). some experience fatigue, low blood pressure, and a painful joint condition called chondrocalcinosis. it is caused by mutations in the slc12a3 or clcnkb genes and is inherited in an autosomal recessive manner. last updated: 11/25/2011

MalaCards: Gitelman Syndrome, also known as hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria, is related to adenoma and hypokalemia. An important gene associated with Gitelman Syndrome is SLC12A3 (solute carrier family 12 (sodium/chloride transporter), member 3), and among its related pathways are Axonal growth inhibition (RHOA activation) and Cation-coupled Chloride cotransporters. The compounds nadph and remikiren have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and t cells, and related mouse phenotypes are renal/urinary system and hematopoietic system.

Genetics Home Reference:21 Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium.

Wikipedia:64 Gitelman syndrome is an autosomal recessive kidney disorder characterized by hypokalemic metabolic... more...

Description from OMIM:47 263800

Aliases & Classifications for Gitelman Syndrome

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Nephrological, Metabolic


Characteristics (Orphanet epidemiological data):

49
gitelman syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Childhood


Aliases & Descriptions:

gitelman syndrome 8 9 43 20 21 47 10 45 49 61
hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria 8 43
primary renal tubular hypokalemic hypomagnesemia with hypocalciuria 49
hypokalemia-hypomagnesemia, primary renotubular, with hypocalciuria 21
tubular hypomagnesemia-hypokalemia with hypocalcuria 21
familial hypokalemia-hypomagnesemia 21
potassium and magnesium depletion 43
gitelman's syndrome 21
gs 21


External Ids:

Disease Ontology8 DOID:0050450
OMIM47 263800
MeSH35 D053579
MESH via Orphanet36 D053579
ICD10 via Orphanet26 N15.8
SNOMED-CT via Orphanet58 3188003
UMLS via Orphanet62 C0268450

Related Diseases for Gitelman Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Gitelman Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 101)
idRelated DiseaseScoreTop Affiliating Genes
1adenoma30.7REN, CASR
2hypokalemia30.4CLCNKB, REN, BSND, CASR, KCNJ1, SLC12A1
3focal segmental glomerulosclerosis30.0REN, AGT, RHOA
4nephrogenic diabetes insipidus29.8CASR, SLC12A1
5coronary heart disease29.8CYBA, AGT
6alzheimer's disease29.8PVALB, DYT10, RHOA, HMOX1
7atherosclerosis29.8CASR, DYT10, RHOA, AGT, CYBA, HMOX1
8n syndrome10.5
9mccune albright syndrome10.4
10mccune–albright syndrome10.4
11adult syndrome10.3
12thyroid adenoma10.3
13cholera10.2
14albright's hereditary osteodystrophy10.2
15pituitary tumors10.2
16multiple endocrine neoplasia10.1
17acrodysostosis10.0
18fibrous dysplasia10.0
19dysautonomia10.0
20gnas hyperfunction10.0
21familial mediterranean fever10.0
22diabetic ketoacidosis10.0
23focal glomerulosclerosis10.0
24char syndrome10.0
25short syndrome10.0
26kid syndrome10.0
27mental retardation10.0
28pseudohypoaldosteronism type 110.0
29short stature10.0
30hypomagnesemia 1, intestinal10.0
31null syndrome10.0
32pancreatitis10.0CASR
33nephrolithiasis10.0CLCNKB, CASR
34portal hypertension10.0REN
35fibromuscular dysplasia10.0REN
36pseudohypoaldosteronism type ii10.0SLC12A3, REN
37renal tubular dysgenesis10.0REN, AGT
38pseudohypoaldosteronism10.0KCNJ1, REN, SLC12A3
39bartter syndrome, type 210.0KCNJ1, REN, SLC12A1
40hemochromatosis10.0HMOX1, CASR
41pulmonary fibrosis10.0HMOX1, AGT
42metabolic acidosis10.0SLC12A1, REN
43uremia10.0DYT10, CASR
44bartter disease10.0SLC12A1, CLCNKB, KCNJ1, BSND
45hyperaldosteronism10.0KCNJ1, REN, CLCNKB, SLC12A3
46polyhydramnios10.0KCNJ1, BSND, CLCNKB, SLC12A1
47myocardial infarction10.0AGT, CYBA, REN
48nephrocalcinosis10.0SLC12A1, CLCNKB, CASR, KCNJ1
49sensorineural hearing loss10.0KCNJ1, CASR, BSND, SLC12A1
50bartter syndrome type 310.0KCNJ1, REN, CLCNKB, SLC12A1, SLC12A3

Graphical network of the top 20 diseases related to Gitelman Syndrome:



Diseases related to gitelman syndrome

Clinical Features for Gitelman Syndrome

Sources:
47OMIM
See all sources

Clinical features from OMIM:

263800

Clinical synopsis from OMIM:

263800

Drugs & Therapeutics for Gitelman Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Gitelman Syndrome

Drug clinical trials:

Search ClinicalTrials for Gitelman Syndrome

Search NIH Clinical Center for Gitelman Syndrome

Search CenterWatch for Gitelman Syndrome

Genetic Tests for Gitelman Syndrome

Sources:
20GeneTests
See all sources

Genetic tests related to Gitelman Syndrome:

id Genetic test Affiliating Genes
1 Gitelman Syndrome20 SLC12A3

Anatomical Context for Gitelman Syndrome

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Gitelman Syndrome:

33
Skin, Kidney, T cells, B cells

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Gitelman Syndrome:
id TissueAnatomical CompartmentCell Relevance
1 KidneyDistal TubuleDistal Tubule Cells Potential therapeutic candidate, affected by disease

Animal Models for Gitelman Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Gitelman Syndrome

Sources:
51PubMed
See all sources

Articles related to Gitelman Syndrome:

(show top 50)    (show all 185)
idTitleAuthorsYear
1
Unexpected clinical sequelae of Gitelman syndrome: hypertension in adulthood is common and females have higher potassium requirements. (23328711)
2013
2
An unusual case of Gitelman's syndrome with hypercalcemia. (22296209)
2012
3
Concomitance of Gitelman syndrome and familial Mediterranean fever: a rare case presentation. (23009175)
2012
4
Gitelman's syndrome with persistent hypokalemia - don't forget licorice, alcohol, lemon juice, iced tea and salt depletion: a case report. (21756318)
2011
5
Pancreatic tumor and Gitelman syndrome. (21961106)
2011
6
Gitelman syndrome complicated with dysglycemia. (21416147)
2011
7
Diabetic ketoacidosis complicated with previously unknown Gitelman syndrome in a Tunisian child. (21617100)
2011
8
Establishment of genetic testing for Gitelman's syndrome]. (20229814)
2010
9
Gitelman syndrome due to p.A204T mutation in CLCNKB gene. (20931281)
2010
10
Early appearance of hypokalemia in Gitelman syndrome. (20552229)
2010
11
Calcific constrictive pericarditis with refractory hypokalemia in a patient with Gitelman's syndrome. (19263512)
2009
12
Clinical and analytical findings in Gitelman's syndrome associated with homozygosity for the c.1925 G>A SLC12A3 mutation. (19420906)
2009
13
Case-control study of the role of the Gitelman's syndrome gene in essential hypertension. (18362449)
2008
14
Acquired Gitelman syndrome in a patient with primary SjAPgren syndrome. (18805608)
2008
15
Novel SLC12A3 mutations in Chinese patients with Gitelman's syndrome. (18287808)
2008
16
A novel initial codon mutation of the thiazide-sensitive Na-Cl cotransporter gene in a Japanese patient with Gitelman's syndrome. (18520105)
2008
17
Hypocalciuria in patients with Gitelman syndrome: role of blood volume. (17472852)
2007
18
Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome. (17329572)
2007
19
Growth, growth hormone testing and response to growth hormone treatment in Gitelman syndrome. (17396444)
2007
20
Atypical Gitelman syndrome with L623P mutation of the thiazide-sensitive Na-Cl cotransporter gene exhibiting lack of hypocalciuria and increased proximal tubule salt reabsorption. (16854846)
2006
21
Hypokalemia in a mouse model of Gitelman's syndrome. (16434571)
2006
22
Correction of renal hypertension after kidney transplantation from a donor with Gitelman syndrome. (16479187)
2006
23
Hypokalemic paralysis due to Gitelman syndrome: a family study. (17000984)
2006
24
Reduced mRNA and protein content of rho guanine nucleotide exchange factor (RhoGEF) in Bartter's and Gitelman's syndromes: relevance for the pathophysiology of hypertension. (16182110)
2005
25
Outcome of pregnancy in a patient with Gitelman syndrome: a case report. (15976513)
2005
26
Gitelman's syndrome--a differential diagnosis in hypokalemia]. (15114386)
2004
27
Cardiac work up in primary renal hypokalaemia-hypomagnesaemia (Gitelman syndrome). (15034158)
2004
28
Functional Gitelman syndrome? (14981619)
2004
29
Is normalisation of serum potassium and magnesium always necessary in Gitelman Syndrome for a successful obstetric outcome? (15198796)
2004
30
Intrafamilial phenotype variability in patients with Gitelman syndrome having the same mutations in their thiazide-sensitive sodium/chloride cotransporter. (14750096)
2004
31
Novel thiazide-sensitive Na-Cl cotransporter mutation in a Chinese patient with Gitelman's syndrome presenting as hypokalaemic paralysis. (12686679)
2003
32
A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes. (12472765)
2003
33
Hypokalemia and hypomagnesemia of hereditary renal tubular origin. Bartter and Gitelman syndromes. (15055023)
2003
34
Reevaluation of the criteria for the clinical diagnosis of Gitelman syndrome. (12185467)
2002
35
Novel NCCT gene mutations as a cause of Gitelman's syndrome and a systematic review of mutant and polymorphic NCCT alleles. (12590198)
2002
36
A case of Gitelman's syndrome with premature ovarian failure. (12141414)
2002
37
Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome. (12112667)
2002
38
Abnormalities of Gq-mediated cell signaling in Bartter and Gitelman syndromes. (11532083)
2001
39
Gitelman's syndrome (familial hypokalemia-hypomagnesemia). (11281344)
2001
40
Inherited primary renal tubular hypokalemic alkalosis: a review of Gitelman and Bartter syndromes. (11780689)
2001
41
Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome. (10616841)
2000
42
Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension. (10988270)
2000
43
A boy presenting with familial short stature--diagnosis Gitelman syndrome. (10614549)
1999
44
Magnesium supplementation in Gitelman syndrome. (10454780)
1999
45
Gitelman syndrome comes of age. (9681697)
1998
46
Studies on the pathogenesis of hypokalemia in Gitelman's syndrome: role of bicarbonaturia and hypomagnesemia. (9481438)
1998
47
Genetic heterogeneity in tubular hypomagnesemia-hypokalemia with hypocalcuria (Gitelman's syndrome). (7723239)
1995
48
Evidence for disturbed regulation of calciotropic hormone metabolism in gitelman syndrome. (7829616)
1995
49
Correction of hypokalemia with antialdosterone therapy in Gitelman's syndrome. (8080005)
1994
50
Gitelman syndrome and hypocalciuria. (1285778)
1992

Genetic Variations for Gitelman Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Gitelman Syndrome:

63 (show all 75)
id Symbol AA change Variation SNP ID
1SLC12A3p.Arg209TrpVAR_007113rs28936388
2SLC12A3p.Pro349LeuVAR_007114
3SLC12A3p.Cys421ArgVAR_007115rs28936387
4SLC12A3p.Asp486AsnVAR_007116
5SLC12A3p.Gly496CysVAR_007117
6SLC12A3p.Ala588ValVAR_007119
7SLC12A3p.Gly630ValVAR_007120rs28936389
8SLC12A3p.Arg655HisVAR_007121
9SLC12A3p.Arg655LeuVAR_007122
10SLC12A3p.Gly741ArgVAR_007124rs138977195
11SLC12A3p.Leu850ProVAR_007125
12SLC12A3p.Arg955GlnVAR_007126
13SLC12A3p.Thr60MetVAR_039475
14SLC12A3p.Asp62AsnVAR_039476
15SLC12A3p.Glu68LysVAR_039477
16SLC12A3p.His69AsnVAR_039478
17SLC12A3p.His90TyrVAR_039479
18SLC12A3p.Arg145HisVAR_039480
19SLC12A3p.Val153MetVAR_039481
20SLC12A3p.Ile154PheVAR_039482
21SLC12A3p.Arg158GlnVAR_039483
22SLC12A3p.Thr163MetVAR_039484
23SLC12A3p.Trp172ArgVAR_039485
24SLC12A3p.Ser178LeuVAR_039486
25SLC12A3p.Thr180LysVAR_039487rs146158333
26SLC12A3p.Gly186AspVAR_039488
27SLC12A3p.Arg209GlnVAR_039489rs28936388
28SLC12A3p.Leu215ProVAR_039490
29SLC12A3p.Ala226ThrVAR_039491
30SLC12A3p.Gly230AspVAR_039492
31SLC12A3p.Arg261HisVAR_039493
32SLC12A3p.Ser283TyrVAR_039495
33SLC12A3p.Lys284ArgVAR_039496
34SLC12A3p.Thr304ProVAR_039497
35SLC12A3p.Ala313ValVAR_039498
36SLC12A3p.Gly316ValVAR_039499
37SLC12A3p.Arg321TrpVAR_039500
38SLC12A3p.Arg334TrpVAR_039501
39SLC12A3p.Gly342AlaVAR_039502
40SLC12A3p.Gly374ValVAR_039503
41SLC12A3p.Arg399CysVAR_039504
42SLC12A3p.Gly439SerVAR_039505
43SLC12A3p.Gly463GluVAR_039506
44SLC12A3p.Ala464ThrVAR_039507
45SLC12A3p.Lys478GluVAR_039508
46SLC12A3p.Leu542ProVAR_039509
47SLC12A3p.Ser555LeuVAR_039510
48SLC12A3p.Pro560HisVAR_039511
49SLC12A3p.Ala569GluVAR_039512
50SLC12A3p.Ala569ValVAR_039513
51SLC12A3p.Val578MetVAR_039514rs139329616
52SLC12A3p.Gly613SerVAR_039515
53SLC12A3p.Ser615LeuVAR_039516
54SLC12A3p.Ser615TrpVAR_039517
55SLC12A3p.Leu623ProVAR_039518
56SLC12A3p.Arg642CysVAR_039519rs200697179
57SLC12A3p.Arg642GlyVAR_039520
58SLC12A3p.Arg642HisVAR_039521
59SLC12A3p.Pro643LeuVAR_039522rs140012781
60SLC12A3p.Thr649ArgVAR_039523
61SLC12A3p.Arg655CysVAR_039524
62SLC12A3p.Met672IleVAR_039525
63SLC12A3p.Val677LeuVAR_039526
64SLC12A3p.Val677MetVAR_039527
65SLC12A3p.Gly729ValVAR_039528
66SLC12A3p.Gly731ArgVAR_039529
67SLC12A3p.Leu738ArgVAR_039530
68SLC12A3p.Leu849HisVAR_039531rs185927948
69SLC12A3p.Arg852CysVAR_039532
70SLC12A3p.Arg852HisVAR_039533
71SLC12A3p.Arg852SerVAR_039534
72SLC12A3p.Gly867SerVAR_039535
73SLC12A3p.Arg871HisVAR_039536
74SLC12A3p.Arg958GlyVAR_039539
75SLC12A3p.Cys985TyrVAR_039540rs199849117

Expression for genes affiliated with Gitelman Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Gitelman Syndrome

Search GEO for disease gene expression data for Gitelman Syndrome.

Pathways for genes affiliated with Gitelman Syndrome

Sources:
54Reactome, 12EMD Millipore, 50PharmGKB, 30KEGG, 38NCBI BioSystems Database
See all sources

Compounds for genes affiliated with Gitelman Syndrome

Sources:
45Novoseek, 24HMDB, 11DrugBank, 50PharmGKB, 29IUPHAR, 60Tocris Bioscience
See all sources

Compounds related to Gitelman Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 65)
idCompoundScoreTop Affiliating Genes
1nadph45 2411.6PVALB
2remikiren45 1111.5REN, AGT
3Quinethazone1110.5SLC12A3, SLC12A1
4aliskiren45 1111.4REN, AGT
5bendroflumethiazide45 1111.4REN, SLC12A3
6saralasin4510.3AGT, REN
7forskolin45 50 1112.3AGT, REN, RGS2
8eprosartan45 29 1112.3AGT, REN
9bumetanide45 60 29 1113.2SLC12A5, SLC12A1, SLC12A3
10benazepril45 1111.2AGT, REN
11potassium chloride45 1111.2SLC12A1, SLC12A5, REN
12thiazide4510.2CASR, REN, SLC12A1, SLC12A3
13hydrochlorothiazide45 50 29 11 2414.2SLC12A3, REN, AGT, CASR
14kn 934510.1DYT10, AGT
15inulin4510.1REN, AGT
16apocynin45 6011.0CYBA, AGT, DYT10
17ang ii4510.0DYT10, AGT, REN
18go 697645 6011.0DYT10, RGS2, HMOX1
19glutamate4510.0RHOA, GNAQ, CASR
20diphenyleneiodonium4510.0DYT10, AGT, CYBA
21furosemide45 50 60 29 11 2414.9BSND, REN, SLC12A5, SLC12A1, SLC12A3
22cgmp45 2910.9RHOA, AGT, REN, HMOX1
23neomycin459.8HMOX1, DYT10, CASR
24bisindolylmaleimide459.8RHOA, DYT10, GNAQ
25guanine45 11 2411.8SLC12A3, AGT, RHOA, GNAQ
26mezerein459.8HMOX1, DYT10
27inositol 1,4,5 trisphosphate459.8CASR, GNAQ, DYT10, AGT
28olmesartan45 29 1111.8REN, AGT
29pip2459.7KCNJ1, GNAQ, DYT10, RHOA
30nacl459.7KCNJ1, CASR, BSND, REN, CLCNKB, SLC12A1
31carbachol45 29 1111.6RGS2, RHOA, DYT10, GNAQ
32chlorine45 2410.6BSND, CLCNKB, SLC12A5, SLC12A1, SLC12A3, SLC12A8
33gtp45 2910.6RGS2, AGT, RHOA, ARHGEF1, GNAQ
34nifedipine45 50 29 1112.5DYT10, RHOA, AGT, REN, HMOX1
35sodium45 2410.5KCNJ1, CASR, BSND, AGT, REN, CLCNKB
36pge2459.5CASR, DYT10, AGT, REN, HMOX1, SLC12A1
37n acetylcysteine459.5DYT10, RHOA, AGT, CYBA, HMOX1
38phosphoinositide459.4GNAQ, DYT10, RHOA, AGT, RGS2
39alanine459.4KCNJ1, CASR, RHOA, RGS2, HMOX1, SLC12A3
40magnesium45 11 2411.4KCNJ1, PVALB, CASR, RHOA, AGT, CLCNKB
41adenylate459.3RGS2, AGT, DYT10, GNAQ, CASR
42actinomycin d459.3CASR, DYT10, RHOA, AGT, RGS2, HMOX1
43potassium45 11 2411.3KCNJ1, CASR, GNAQ, BSND, AGT, REN
44arginine459.3KCNJ1, CASR, ARHGEF1, RHOA, AGT, REN
45sb 20358045 6010.2DYT10, RHOA, AGT, HMOX1
46cyclic amp45 2410.1CASR, GNAQ, DYT10, RHOA, RGS2
47chloride459.1SLC12A3, KCNJ1, PVALB, CASR, BSND, REN
48nitric oxide45 11 2410.9PVALB, CASR, GNAQ, RHOA, AGT, CYBA
49tyrosine458.1KCNJ1, PVALB, CASR, GNAQ, DYT10, ARHGEF1
50calcium45 50 11 2410.7RHOA, BSND, DYT10, GNAQ, CASR, PVALB

GO Terms for genes affiliated with Gitelman Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Gitelman Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:0058867.3SLC12A9, CASR, GNAQ, BSND, ARHGEF1, RHOA

Biological processes related to Gitelman Syndrome according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1renin-angiotensin regulation of aldosterone productionGO:00201810.2AGT, REN
2angiotensin maturationGO:00200310.1REN, AGT
3kidney developmentGO:00182210.0REN, AGT, KCNJ1
4ion transmembrane transportGO:03422010.0SLC12A1, CLCNKB, BSND
5excretionGO:0075889.9HMOX1, CLCNKB, AGT, KCNJ1
6potassium ion transportGO:0068139.6KCNJ1, SLC12A5, SLC12A1, SLC12A8
7transportGO:0068109.6CLCNKB, SLC12A5, SLC12A1, SLC12A3
8transmembrane transportGO:0550859.4SLC12A3, SLC12A1, SLC12A5, HMOX1, CLCNKB, BSND
9negative regulation of neuron apoptotic processGO:0435249.4HMOX1, AGT, RHOA

Molecular functions related to Gitelman Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1GTPase activator activityGO:0050969.7RGS2, ARHGEF1, GNAQ

Products for genes affiliated with Gitelman Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gitelman Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet