TOF
MCID: TTR001
MIFTS: 76

Tetralogy of Fallot (TOF) malady

Cardiovascular diseases, Fetal diseases categories

Summaries for Tetralogy of Fallot

About this section
Sources:
42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 Tetralogy of fallot is a complex congenital heart defect characterized by a large ventricular septal defect (hole between the right and left ventricles), pulmonary stenosis (narrowing of the valve and artery that connect the heart with the lungs), an overriding aorta (the aorta - the artery that carries oxygen-rich blood to the body - is shifted over the right ventricle and ventricular septal defect, instead of coming out only from the left ventricle), and right ventricular hypertrophy (the muscle of the right ventricle is thicker than usual). tetralogy of fallot causes low oxygen levels in the blood, which can lead to cyanosis (a bluish-purple color to the skin). the cause of this condition is unknown. treatment involves surgery to repair the heart defects. sometimes more than one surgery is needed.  last updated: 3/15/2012

MalaCards: Tetralogy of Fallot, also known as fallot tetralogy, is related to atrioventricular septal defect and ventricular septal defect, and has symptoms including undescended/ectopic testes/cryptorchidia/unfixed testes, tetralogy of fallot/trilogy of fallot and branchial/posterior auricular/preauricular/cheek cysts/fistulae. An important gene associated with Tetralogy of Fallot is DGCR (DiGeorge syndrome chromosome region), and among its related pathways are HOP Signaling and Wnt / Hedgehog / Notch. The compounds nitric oxide and zinc have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and skin, and related mouse phenotypes are limbs/digits/tail and liver/biliary system.

Wikipedia:63 Tetralogy of Fallot (TOF) is a congenital heart defect which is classically understood to involve four... more...

Description from OMIM:46 187500

Aliases & Classifications for Tetralogy of Fallot

About this section
Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 46OMIM, 10DISEASES, 48Orphanet, 22GTR, 27ICD9CM, 56SNOMED-CT, 39NCIt, 34MeSH, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Cardiovascular diseases


Characteristics (Orphanet epidemiological data):

48
tetralogy of fallot:
Inheritance: Autosomal dominant,Multigenic/multifactorial; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

tetralogy of fallot 8 9 42 46 10 48
fallot tetralogy 42 22
atresia, dextraposition of aorta, and hypertrophy of right ventricle 8
ventricular septal defect with pulmonary stenosis 8
tetralogy of fallot, unspecified 8
tetralogy of fallot nos 8
tof 42


External Ids:

Disease Ontology8 DOID:6419
ICD9CM27 745.2
NCIt39 C84505
MeSH34 D013771
OMIM46 187500
ICD10 via Orphanet26 Q21.3
SNOMED-CT via Orphanet57 86299006
UMLS via Orphanet61 C0039685
MESH via Orphanet35 D013771
ICD1025 Q21.3

Related Diseases for Tetralogy of Fallot

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Tetralogy of Fallot via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 228)
idRelated DiseaseScoreTop Affiliating Genes
1atrioventricular septal defect31.3NKX2-5, GATA4
2ventricular septal defect31.3NPPB, JAG1, GATA4, NKX2-5
3digeorge syndrome30.9TBX1, CTHM, DGCR, UFD1L
4hypertension30.6NPPB
5patent ductus arteriosus30.6TBX1
6congenital heart defect30.5NPPB, GATA4, NKX2-5
7mckusick-kaufman syndrome30.4MKKS
8ebstein anomaly30.2TBX1
9heart septal defect30.2NKX2-5, GATA4
10holt-oram syndrome30.2TBX1
11polydactyly30.2MKKS, BBS2, BBS7
12noonan syndrome30.2NKX2-5, GATA4, NPPB
13velocardiofacial syndrome29.7UFD1L, TBX1
14double outlet right ventricle10.8
15right bundle branch block10.7
16endocarditis10.6
17dextrocardia10.5
18pulmonary valve stenosis10.5
19pulmonary valve insufficiency10.5
20left bundle branch hemiblock10.5
21image syndrome10.5
22tracheal stenosis10.4
23cerebritis10.4
24situs inversus10.4
25hypertrophic cardiomyopathy10.4
26subacute bacterial endocarditis10.4
27duodenal atresia tetralogy of fallot10.4
28tetralogy of fallot and glaucoma10.4
29hypertelorism and tetralogy of fallot10.4
30purpura10.4
31complete atrioventricular canal - fallot tetralogy10.3
32breast cancer10.3
33goldenhar syndrome10.3
34coronary aneurysm10.3
35discrete subaortic stenosis10.3
36microcephaly10.3
37hypertensive heart disease10.3
38constrictive pericarditis10.3
39aortic aneurysm10.3
40cervicitis10.3
41hydrocephalus10.3
42lipoma10.3
43long qt syndrome10.3
44pericarditis10.3
45pheochromocytoma10.3
46german syndrome10.3
47single median maxillary central incisor10.3
48alcohol abuse10.2
49ischemic retinopathy10.1
50central retinal artery occlusion10.1

Graphical network of the top 20 diseases related to Tetralogy of Fallot:



Diseases related to tetralogy of fallot

Clinical Features for Tetralogy of Fallot

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

187500

Symptoms:

48 (show all 13)
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • tetralogy of fallot/trilogy of fallot
  • branchial/posterior auricular/preauricular/cheek cysts/fistulae
  • long/large/bulbous nose
  • short hand/brachydactyly
  • clinodactyly of fifth finger
  • autosomal dominant inheritance
  • intrauterine growth retardation
  • dolichocephaly/scaphocephaly
  • flat supraorbital ridge
  • proptosis/exophthalmos
  • thin/retracted lips
  • broad forehead

Drugs & Therapeutics for Tetralogy of Fallot

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Tetralogy of Fallot

Drug clinical trials:

Search ClinicalTrials for Tetralogy of Fallot

Search NIH Clinical Center for Tetralogy of Fallot

Search CenterWatch for Tetralogy of Fallot

Genetic Tests for Tetralogy of Fallot

About this section
Sources:
22GTR
See all sources

Genetic tests related to Tetralogy of Fallot:

id Genetic test Affiliating Genes
1 Tetralogy of Fallot22

Anatomical Context for Tetralogy of Fallot

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Tetralogy of Fallot:

32
Heart, Lung, Skin, Testes, Brain, Trachea, Bone, Lymph node, Kidney, Placenta

Animal Models for Tetralogy of Fallot or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Tetralogy of Fallot:

36 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537110.4BBS7, BBS2, CITED2, MKKS, VANGL2
2MP:000537010.4BBS2, JAG1, GATA4, GATA6, GDF1, ZFPM2
3MP:000536910.4GATA4, JAG1, HAND1, NPPB, GATA6, GATA5
4MP:000539010.4JAG1, GATA4, GATA5, CITED2, TBX1, VANGL2
5MP:000537910.4BBS2, JAG1, GATA4, GATA5, CITED2, TBX1
6MP:000538010.4GATA4, JAG1, HAND1, BBS7, GATA6, CITED2
7MP:000538210.4JAG1, HAND1, FEZF2, BBS7, CITED2, NKX2-5
8MP:000538110.3BBS7, BBS2, JAG1, GATA4, GATA5, CITED2
9MP:000538810.3FEZF2, GATA4, GATA6, CITED2, NKX2-5, TBX1
10MP:000536710.3BBS2, JAG1, GATA5, CITED2, VANGL2, GDF1
11MP:000539410.3BBS2, FEZF2, MKKS
12MP:000538410.3GATA4, JAG1, HAND1, FEZF2, GATA6, GATA5
13MP:000287310.3BBS2, UFD1L, HAND1, JAG1, GATA4, GATA6
14MP:000539710.2JAG1, GATA4, GATA6, CITED2, NKX2-5, TBX1
15MP:000301210.2JAG1, GATA4, NKX2-5, VANGL2, ZFPM2, GJA5
16MP:000537810.2GATA4, JAG1, HAND1, FEZF2, BBS2, GATA6
17MP:000537610.2GATA6, GATA4, JAG1, HAND1, BBS7, GATA5
18MP:000363110.2BBS7, BBS2, FEZF2, HAND1, JAG1, GATA4
19MP:000538510.2GJA5, BBS7, NPPB, HAND1, JAG1, GATA4
20MP:001076810.1GATA6, GATA4, JAG1, HAND1, FEZF2, BBS7
21MP:000538910.0BBS2, GATA4, GATA5, MKKS, VANGL2, ZFPM2
22MP:00053919.9BBS2, JAG1, CITED2, MKKS, VANGL2, BBS7

Publications for Tetralogy of Fallot

About this section
Sources:
50PubMed
See all sources

Articles related to Tetralogy of Fallot:

(show top 50)    (show all 733)
idTitleAuthorsYear
1
Low incidence of arrhythmias in the right ventricular infundibulum sparing approach to tetralogy of fallot repair. (23921493)
2014
2
Ventricular response to dobutamine stress relates to the change in peak oxygen uptake during the 5-year follow-up in young patients with repaired tetralogy of Fallot. (23867136)
2014
3
Primary repair of tetralogy of Fallot in infants: Transatrial/transpulmonary or transventricular approach. (24054755)
2013
4
A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot. (23623288)
2013
5
Intersurgeon variability in long-term outcomes after transatrial repair of tetralogy of Fallot: 25 years' experience with 675 patients. (24332672)
2013
6
The effects of pregnancy on right ventricular remodeling in women with repaired tetralogy of Fallot. (23369674)
2013
7
Tetralogy of Fallot: epidemiology meets real-world management: lessons from the Baltimore-Washington Infant Study. (24401260)
2013
8
Increase in cardiac troponin I in a lamb with tetralogy of fallot. (23685750)
2013
9
22q11.2 deletion syndrome as a risk factor for aortic root dilation in tetralogy of Fallot. (23570688)
2013
10
Does limited right ventriculotomy prevent right ventricular dilatation and dysfunction in patients who undergo transannular repair of tetralogy of Fallot? Matched comparison of magnetic resonance imaging parameters with conventional right ventriculotomy long-term after repair. (24365272)
2013
11
Gene expression analysis in cardiac tissues from infants identifies candidate agents for Tetralogy of Fallot. (23563574)
2013
12
Abnormal Agitated Saline Study Results after Tetralogy of Fallot Repair. (24102990)
2013
13
Pentalogy of Cantrell with Ectopia Cordis Totalis, Total Anomalous Pulmonary Venous Connection, and Tetralogy of Fallot: A Case Report and Review of the Literature. (23750667)
2013
14
5-year serial follow-up of clinical condition and ventricular function in patients after repair of tetralogy of Fallot. (24182670)
2013
15
Unrepaired tetralogy of fallot with major aortopulmonary collateral arteries in an adult patient. (22176554)
2013
16
Systemic hypertension in an infant with unrepaired tetralogy of Fallot: case report. (23149090)
2013
17
Impaired arm development after Blalock-Taussig shunts in adults with repaired tetralogy of Fallot. (23159407)
2013
18
Symptomatic but not asymptomatic non-sustained ventricular tachycardia is associated with appropriate implantable cardioverter therapy in tetralogy of Fallot. (22608897)
2013
19
Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. (23297363)
2013
20
Assessing ventricular scar in tetralogy of Fallot. (24129204)
2013
21
Improved cardiac MRI volume measurements in patients with tetralogy of Fallot by independent end-systolic and end-diastolic phase selection. (23383197)
2013
22
Arterial desaturation and left atrial contrast opacification after tetralogy of Fallot repair. (22503794)
2013
23
Postoperative tetralogy of fallot with concomitant atrial fibrillation and ventricular tachycardia. (22808576)
2012
24
Functional health status of adults with tetralogy of Fallot: matched comparison with healthy siblings. (22429671)
2012
25
Effect of preoperational mechanical ventilation on short-term postoperative outcomes in patients with severe tetralogy of Fallot. (22841321)
2012
26
Transesophageal echocardiography in tetralogy of Fallot. (22344815)
2012
27
Younger age and valve oversizing are predictors of structural valve deterioration after pulmonary valve replacement in patients with tetralogy of Fallot. (22153723)
2012
28
Left main coronary artery atresia with tetralogy of Fallot: a novel association. (22502965)
2012
29
Tricuspid annular peak systolic velocity (S') in children and young adults with pulmonary artery hypertension secondary to congenital heart diseases, and in those with repaired tetralogy of Fallot: echocardiography and MRI data. (22763086)
2012
30
Genetic determinants of right-ventricular remodeling after tetralogy of Fallot repair. (22797143)
2012
31
A tetralogy of fallot associated with a stenotic pulmonary valve and agenesis of the ductus arteriosus in a 13-week-old fetus: the role of postmortem examination. (22356422)
2012
32
Mutational analysis of JAG1 gene in non-syndromic tetralogy of Fallot children. (21893051)
2011
33
Percutaneous implantation of an Edwards SAPIEN valve in a failing pulmonary bioprosthesis in palliated tetralogy of Fallot. (21273203)
2011
34
Compression of the left main coronary artery by a pulmonary artery aneurysm in a patient with tetralogy of Fallot and an absent pulmonary valve. (21447083)
2011
35
The role of mechanical-electrical interaction in ventricular arrhythmia: evidence from a novel animal model for repaired tetralogy of Fallot. (21623255)
2011
36
Children and adolescents with repaired tetralogy of fallot report quality of life similar to healthy peers. (21269409)
2011
37
Tetralogy of Fallot: impact of the excursion of the interventricular septum on left ventricular systolic function and fibrosis after surgical repair. (21248236)
2011
38
Genetic screening of the canine zinc finger protein multitype 2 (cZFPM2) gene in dogs with tetralogy of Fallot (TOF). (19630881)
2009
39
Lymphocytic interstitial pneumonia and pulmonary embolism in a patient with tetralogy of Fallot and common variable immunodeficiency: is there any link? (18443164)
2008
40
Genetic factors are important determinants of neurodevelopmental outcome after repair of tetralogy of Fallot. (18179924)
2008
41
N-terminal pro-brain natriuretic peptide as a marker in follow-up patients with tetralogy of Fallot after total correction. (17607502)
2007
42
Anesthesia in an infant with uncorrected tetralogy of Fallot for transanal pull-through for Hirschsprung's disease. (16409542)
2006
43
Microcephaly, lissencephaly, Hirschsprung disease and tetralogy of Fallot: a new syndrome? (16531738)
2006
44
Repair of complete atrioventricular septal defect with tetralogy of fallot: our experience and literature review. (15016061)
2004
45
Lung perfusion with protective solution relieves lung injury in corrections of Tetralogy of Fallot. (14992899)
2004
46
Idiopathic calcific constrictive pericarditis causing pulmonary stenosis associated with a ventricular septal defect mimicking tetralogy of Fallot. (12692833)
2003
47
Around PediHeart: Double-Outlet Right Ventricle Versus Tetralogy of Fallot. (10982711)
2000
48
Surgical treatment of complete atrioventricular septal defect associated with tetralogy of Fallot. (7782135)
1995
49
Complete atrioventricular canal associated with tetralogy of Fallot or double-outlet right ventricle and right ventricular outflow tract obstruction: a report of successful surgical treatment. (3718037)
1986
50
Results of total correction of tetralogy of Fallot with complete atrioventricular canal. (7218843)
1981

Genetic Variations for Tetralogy of Fallot

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Tetralogy of Fallot:

62 (show all 14)
id Symbol AA change Variation ID SNP ID
1GATA4p.Pro407GlnVAR_067619rs115099192
2GATA6p.Ser184AsnVAR_067382
3GDF1p.Gly162AspVAR_065333
4GDF1p.Ser309ProVAR_065336
5GDF1p.Pro312ThrVAR_065337
6JAG1p.Gly274AspVAR_013200rs28939668
7NKX2-5p.Arg25CysVAR_010116rs28936670
8NKX2-5p.Glu21GlnVAR_038215
9NKX2-5p.Gln22ProVAR_038216
10NKX2-5p.Arg216CysVAR_038239
11NKX2-5p.Ala219ValVAR_038240
12NKX2-5p.Ala323ThrVAR_038253
13ZFPM2p.Glu30GlyVAR_017942rs121908601
14ZFPM2p.Ser657GlyVAR_017943rs28374544

Expression for genes affiliated with Tetralogy of Fallot

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Tetralogy of Fallot

Search GEO for disease gene expression data for Tetralogy of Fallot.

Pathways for genes affiliated with Tetralogy of Fallot

About this section
Sources:
51QIAGEN, 4Cell Signaling Technology, 53Reactome, 37NCBI BioSystems Database
See all sources

Compounds for genes affiliated with Tetralogy of Fallot

About this section
Sources:
44Novoseek, 11DrugBank, 24HMDB
See all sources

Compounds related to Tetralogy of Fallot according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nitric oxide44 11 2412.3GJA5, NKX2-5, GATA4, JAG1, NPPB
2zinc44 2410.9ZFPM2, NPPB, GATA4, GATA6, GATA5, NKX2-5

GO Terms for genes affiliated with Tetralogy of Fallot

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Tetralogy of Fallot according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1BBSomeGO:03446410.4BBS2, BBS7

Biological processes related to Tetralogy of Fallot according to GeneCards/GeneDecks:

(show top 50)    (show all 52)
idNameGO IDScoreTop Affiliating Genes
1right ventricular cardiac muscle tissue morphogenesisGO:00322110.8ZFPM2, NKX2-5
2embryonic heart tube left/right pattern formationGO:06097110.8CITED2, NKX2-5
3positive regulation of cardioblast differentiationGO:05189110.8GATA4, GATA6, NKX2-5
4pulmonary artery morphogenesisGO:06115610.8JAG1, CITED2
5intestinal epithelial cell differentiationGO:06057510.8GATA4, GATA6, GATA5
6atrial septum morphogenesisGO:06041310.8GATA4, NKX2-5, GJA5
7cardiac conduction system developmentGO:00316110.8NKX2-5, GJA5
8outflow tract septum morphogenesisGO:00314810.8GATA6, NKX2-5, TBX1, ZFPM2
9embryonic heart tube developmentGO:03505010.8GJA5, NKX2-5, HAND1
10negative regulation of appetite by leptin-mediated signaling pathwayGO:03810810.8BBS2, MKKS
11outflow tract morphogenesisGO:00315110.8CITED2, TBX1, GJA5
12pigment granule aggregation in cell centerGO:05187710.8BBS7, MKKS
13cardiac septum morphogenesisGO:06041110.8JAG1, HAND1
14positive regulation of male gonad developmentGO:200002010.8ZFPM2, CITED2
15ventricular septum morphogenesisGO:06041210.8CITED2, NKX2-5, ZFPM2, GJA5
16regulation of cilium beat frequency involved in ciliary motilityGO:06029610.8BBS2, MKKS
17response to estrogen stimulusGO:04362710.7GATA4, GATA6, CITED2
18nonmotile primary cilium assemblyGO:03505810.7VANGL2, MKKS
19melanosome transportGO:03240210.7BBS7, BBS2, MKKS
20determination of left/right symmetryGO:00736810.7MKKS, TBX1, CITED2, BBS7
21vasculogenesisGO:00157010.7ZFPM2, NKX2-5, CITED2
22endocardial cushion developmentGO:00319710.7GATA4, CITED2
23artery smooth muscle contractionGO:01482410.7BBS2, MKKS
24cilium morphogenesisGO:06027110.7MKKS, BBS2, BBS7
25heart developmentGO:00750710.7HAND1, CITED2, TBX1, MKKS
26cardiac right ventricle morphogenesisGO:00321510.7JAG1, GATA4
27fat cell differentiationGO:04544410.7MKKS, BBS2, BBS7
28aorta morphogenesisGO:03590910.7JAG1, TBX1
29male gonad developmentGO:00858410.7CITED2, GATA6, GATA4
30angiogenesisGO:00152510.7HAND1, JAG1, TBX1, GJA5
31striatum developmentGO:02175610.7BBS2, MKKS
32regulation of vasodilationGO:04231210.7NPPB, GJA5
33cardiac muscle hypertrophy in response to stressGO:01489810.7GATA4, GATA6
34negative regulation of gene expressionGO:01062910.7MKKS, CITED2, BBS2
35negative regulation of transcription from RNA polymerase II promoterGO:00012210.6FEZF2, HAND1, GATA6, CITED2, NKX2-5, ZFPM2
36negative regulation of transcription, DNA-dependentGO:04589210.6HAND1, GATA6, CITED2, NKX2-5, ZFPM2
37regulation of cardiac muscle contractionGO:05511710.6NKX2-5, GJA5
38cellular response to BMP stimulusGO:07177310.6GATA6, GATA5
39positive regulation of transcription, DNA-dependentGO:04589310.6FEZF2, GATA4, CITED2, NKX2-5, TBX1
40heart loopingGO:00194710.6VANGL2, MKKS, NKX2-5, CITED2, GATA4, HAND1
41brain morphogenesisGO:04885410.6BBS2, MKKS
42pharyngeal system developmentGO:06003710.6NKX2-5, TBX1
43positive regulation of transcription from RNA polymerase II promoterGO:04594410.6HAND1, JAG1, GATA4, GATA6, GATA5, CITED2
44digestive tract morphogenesisGO:04854610.5BBS7, VANGL2
45ventricular septum developmentGO:00328110.5GATA4, GJA5
46trophectodermal cell differentiationGO:00182910.5HAND1, CITED2
47cardiac muscle cell differentiationGO:05500710.4NKX2-5, GATA6
48vasodilationGO:04231110.4BBS2, MKKS
49thyroid gland developmentGO:03087810.3TBX1, NKX2-5
50positive regulation of cardiac muscle cell proliferationGO:06004510.1GATA6, GATA4

Molecular functions related to Tetralogy of Fallot according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00370510.4GATA4, GATA6, GATA5, NKX2-5
2transcription regulatory region DNA bindingGO:04421210.4NKX2-5, GATA5, GATA6, GATA4, HAND1
3RNA polymerase II transcription coactivator activityGO:00110510.4ZFPM2, CITED2
4transcription factor bindingGO:00813410.3HAND1, GATA4, GATA6, NKX2-5, ZFPM2
5enhancer sequence-specific DNA bindingGO:00115810.3GATA5, GATA4
6sequence-specific DNA binding transcription factor activityGO:00370010.2GATA4, GATA6, GATA5, CITED2, NKX2-5, TBX1
7chromatin bindingGO:00368210.0GATA4, GATA6, CITED2, NKX2-5

Products for genes affiliated with Tetralogy of Fallot

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tetralogy of Fallot

About this section
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