MCID: HYP037
MIFTS: 51

Hyperhomocysteinemia malady

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Summaries for Hyperhomocysteinemia

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8Disease Ontology, 65Wikipedia, 33MalaCards
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Wikipedia:65 Hyperhomocysteinemia or hyperhomocysteinaemia is a medical condition characterized by an abnormally high... more...

MalaCards: Hyperhomocysteinemia is related to atherosclerosis and retinal vein occlusion. An important gene associated with Hyperhomocysteinemia is FOLH1 (folate hydrolase (prostate-specific membrane antigen) 1), and among its related pathways are Folate-Alcohol and Cancer Pathway and Selenocompound metabolism. The compounds methyl-group and 5-Methyltetrahydrofolic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, endothelial and heart, and related mouse phenotypes are liver/biliary system and growth/size/body.

Disease Ontology:8 An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.

Aliases & Classifications for Hyperhomocysteinemia

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8Disease Ontology, 10DISEASES, 45Novoseek, 62UMLS, 58SNOMED-CT, 40NCIt, 35MeSH
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Aliases & Descriptions:

hyperhomocysteinemia 8 10 45 62


External Ids:

Disease Ontology8 DOID:9279
NCIt40 C84770
SNOMED-CT58 419503008
MeSH35 D020138

Related Diseases for Hyperhomocysteinemia

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17GeneCards, 18GeneDecks
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Diseases related to Hyperhomocysteinemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 163)
idRelated DiseaseScoreTop Affiliating Genes
1atherosclerosis30.7MTHFR, CBS, SOD3, MTR
2retinal vein occlusion30.7MTHFR, F5
3vascular disease30.7SOD3, CBS
4central retinal vein occlusion30.7MTHFR, F5
5coronary artery disease30.6CBS, MTR, MTHFR
6vitamin b12 deficiency30.6MTR, MTHFR
7thromboembolism30.5CBS, MTHFR, MTR, F5, HRG
8venous thrombosis30.5MTHFR, CBS, MTR, F5, HRG, AHCY
9myocardial infarction30.4SOD3, MTHFR, HRG, F5, MTR, CBS
10pregnancy loss30.3F5, MTHFR
11pulmonary embolism30.3F5, MTHFR, CBS
12acute myocardial infarction30.3SOD3, CBS, HRG
13portal vein thrombosis30.3MTHFR, F5
14thrombophilia30.1CBS, F5, HRG, MTHFR
15branch retinal artery occlusion30.1F5
16homocystinuria30.1MTHFR, MTRR, MTR, CBS, BHMT, CTH
17protein s deficiency30.1F5, MTHFR
18antiphospholipid syndrome30.0F5, MTHFR
19homocysteinemia30.0CBS, MTHFR, MTR, F5
20protein c deficiency30.0F5, HRG, MTHFR
21megaloblastic anemia29.9MTR
22breast cancer29.9MTR, CBS, MTRR, FOLH1, MTHFR
23peripheral vascular disease29.9MTHFR, CBS
24methylmalonic acidemia29.9MTHFR, MTR
25leukemia29.9MTHFR, CBS, MTR, AHCY
26placental abruption29.8F5, MTHFR
27hypermethioninemia29.8CTH, CBS, AHCY
28neural tube defects29.8MTR, MTRR, MTHFR, CBS
29retinitis10.6
30endotheliitis10.5
31cerebritis10.5
32artery disease10.4
33dementia10.4
34hypertension10.4
35venous thromboembolism10.4
36hepatitis10.3
37parkinson's disease10.3
38alzheimer's disease10.3
39diabetes mellitus10.3
40uremia10.2
41crohn's disease10.2
42pernicious anemia10.2
43inflammatory bowel disease10.2
44ischemia10.2
45retinal artery occlusion10.2
46insulin resistance10.2
47aneurysm10.2
48eclampsia10.1MTHFR
49vascular dementia10.1
50ulcerative colitis10.1

Graphical network of the top 20 diseases related to Hyperhomocysteinemia:



Diseases related to hyperhomocysteinemia

Symptoms for Hyperhomocysteinemia

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Drugs & Therapeutics for Hyperhomocysteinemia

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Hyperhomocysteinemia

Search NIH Clinical Center for Hyperhomocysteinemia

Genetic Tests for Hyperhomocysteinemia

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Anatomical Context for Hyperhomocysteinemia

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33MalaCards
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MalaCards organs/tissues related to Hyperhomocysteinemia:

33
Brain, Endothelial, Heart, Bone, Liver, Kidney, Monocytes, Testes, Breast, Skin, Cortex, Skeletal muscle, Colon, Myeloid, Lung, Ovary, Retina

Animal Models for Hyperhomocysteinemia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Hyperhomocysteinemia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.7CTH, F5, BHMT, CBS
2MP:00053787.7CTH, CBS, MTHFR, MTRR, BHMT, F5
3MP:00053765.9MTR, F5, CTH, HRG, MTRR, MTHFR

Publications for Hyperhomocysteinemia

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52PubMed
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Articles related to Hyperhomocysteinemia:

(show top 50)    (show all 745)
idTitleAuthorsYear
1
Hyperhomocysteinemia is an independent predictor of sub-clinical carotid vascular damage in subjects with grade-1 hypertension. (24197804)
2013
2
Comparative antiadhesive properties of crude extract and phenolic fraction isolated from aerial parts of Tribulus pterocarpus during severe hyperhomocysteinemia. (23376508)
2013
3
Hyperhomocysteinemia in bipolar depression: clinical and biochemical correlates. (24193367)
2013
4
Novel spectrophotometric method for the quantitation of urinary xanthurenic acid and its application in identifying individuals with hyperhomocysteinemia associated with Vitamin Ba88 deficiency. (24151616)
2013
5
Hydrogen sulphide pathway contributes to the enhanced human platelet aggregation in hyperhomocysteinemia. (24019484)
2013
6
Exercise prevents hyperhomocysteinemia in a dietary folate-restricted mouse model. (23746565)
2013
7
Coenzyme Q10, hyperhomocysteinemia and MTHFR C677T polymorphism in levodopa-treated Parkinson's disease patients. (22354693)
2012
8
Chronic hyperhomocysteinemia increases inflammatory markers in hippocampus and serum of rats. (22484967)
2012
9
Metabolic interactions between the hyperhomocysteinemia and angiotensin-1 converting enzyme activity in Tunisian patients with coronary heart disease]. (23047907)
2012
10
Hyperhomocysteinemia and related genetic polymorphisms correlate with ulcerative colitis in Chinese Han population in Central China [corrected]. (21947961)
2012
11
Hyperhomocysteinemia and methylenetetrahydrofolate reductase polymorphism in a patient with coronary artery disease and repetitive miscarriages. (23610979)
2012
12
The effects of hyperhomocysteinemia on the microcirculation of skin flaps. (21865985)
2011
13
Association of hyperhomocysteinemia with liver steatosis in patients with chronic hepatitis C]. (21051057)
2011
14
Epithelial-to-mesenchymal transition in podocytes mediated by activation of NADPH oxidase in hyperhomocysteinemia. (21647593)
2011
15
Mechanisms of cardiovascular remodeling in hyperhomocysteinemia. (21126196)
2011
16
Chronic hyperhomocysteinemia causes vascular remodelling by instigating vein phenotype in artery. (21838575)
2011
17
Carotid dissection causing stroke in a 13-year-old boy with mild hyperhomocysteinemia: case report. (21675455)
2011
18
Hyperhomocysteinemia: can't it account for retinoid-induced fracture proneness? (20228554)
2010
19
Hyperhomocysteinemia and sudden cardiac death: potential arrhythmogenic mechanisms. (19485933)
2010
20
Hyperhomocysteinemia-induced myocardial injury after coronary artery bypass. (19917790)
2009
21
Exogenous folate ameliorates ethanol-induced brain hyperhomocysteinemia and exogenous ethanol reduces taurine levels in chick embryos. (19345280)
2009
22
Short hypoxia could attenuate the adverse effects of hyperhomocysteinemia on the developing rat brain by inducing neurogenesis. (19124018)
2009
23
BuChE-K and APOE epsilon4 allele frequencies in Lewy body dementias, and influence of genotype and hyperhomocysteinemia on cognitive decline. (19006190)
2009
24
Mesna for treatment of hyperhomocysteinemia in hemodialysis patients: a placebo-controlled, double-blind, randomized trial. (18337551)
2008
25
Modulatory effect of curcumin on methionine-induced hyperlipidemia and hyperhomocysteinemia in albino rats. (18807758)
2008
26
Prothrombotic effects of hyperhomocysteinemia and hypercholesterolemia in ApoE-deficient mice. (17082485)
2007
27
Efficacy of folic acid in children with migraine, hyperhomocysteinemia and MTHFR polymorphisms. (17927652)
2007
28
Genetically based hypertension generated through interaction of mild hypoalphalipoproteinemia and mild hyperhomocysteinemia. (17620955)
2007
29
Concurrent folate treatment prevents Na+,K+-ATPase activity inhibition and memory impairments caused by chronic hyperhomocysteinemia during rat development. (18023318)
2007
30
Should hyperhomocysteinemia be treated in patients with atherosclerotic disease? (18001620)
2007
31
Association of tow thrombotic risk factors: factor V Leiden and hyperhomocysteinemia. A case report]. (16707235)
2007
32
Adaptive-outward and maladaptive-inward arterial remodeling measured by intravascular ultrasound in hyperhomocysteinemia and diabetes. (16703221)
2006
33
Hyperhomocysteinemia and methylenetetrahydrofolate reductase polymorphism in patients with Parkinson's disease. (16787708)
2006
34
Folate deficiency-induced hyperhomocysteinemia attenuates, and folic acid supplementation restores, the functional activities of rat coagulation factors XII, X, and II. (16046705)
2005
35
A clinical study of hyperhomocysteinemia in rheumatological diseases]. (15840222)
2005
36
Prevalence of hyperhomocysteinemia in adult gluten-sensitive enteropathy at diagnosis: role of B12, folate, and genetics. (15952099)
2005
37
Novel insertion and deletion mutations in the 5'-UTR of the folate receptor-alpha gene: an additional contributor to hyperhomocysteinemia? (14972645)
2004
38
MTHFR C677T polymorphism, folic acid and hyperhomocysteinemia in levodopa treated patients with Parkinson's disease. (15354385)
2004
39
Hyperhomocysteinemia, enzyme polymorphism and thiobarbituric Acid reactive system in children with high coronary risk family history. (15466944)
2004
40
TDAG51 is induced by homocysteine, promotes detachment-mediated programmed cell death, and contributes to the development of atherosclerosis in hyperhomocysteinemia. (12738777)
2003
41
Impairment of energy metabolism in hippocampus of rats subjected to chemically-induced hyperhomocysteinemia. (12697299)
2003
42
S-homocysteinylation of transthyretin is detected in plasma and serum of humans with different types of hyperhomocysteinemia. (14511677)
2003
43
Interaction between hyperhomocysteinemia, mutated methylenetetrahydrofolatereductase (MTHFR) and inherited thrombophilic factors in recurrent venous thrombosis. (12428084)
2002
44
Post-methionine-load hyperhomocysteinemia and increased lipoprotein(a) are associated with renal metabolic dysfunction: a hypothesis. (12370840)
2002
45
Effect of hyperhomocysteinemia on protein C activation and activity. (12200374)
2002
46
Cerebrovascular events in patients with significant stenosis of the carotid artery are associated with hyperhomocysteinemia and platelet antigen-1 (Leu33Pro) polymorphism. (11739968)
2001
47
High prevalence of mild hyperhomocysteinemia in patients with abdominal aortic aneurysm. (10957660)
2000
48
MR and proton MR spectroscopy of the brain in hyperhomocysteinemia caused by methylenetetrahydrofolate reductase deficiency. (9090418)
1997
49
Absence of hyperhomocysteinemia in ten patients with primary pulmonary hypertension. (9058503)
1997
50
Hyperhomocysteinemia-induced vascular damage in the minipig. Captopril-hydrochlorothiazide combination prevents elastic alterations. (7850955)
1995

Variations for Hyperhomocysteinemia

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Expression for genes affiliated with Hyperhomocysteinemia

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyperhomocysteinemia

Search GEO for disease gene expression data for Hyperhomocysteinemia.

Pathways for genes affiliated with Hyperhomocysteinemia

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50PathCards, 38NCBI BioSystems Database, 30KEGG, 55Reactome, 51PharmGKB, 60Thomson Reuters
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Pathways related to Hyperhomocysteinemia according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9MTHFR, CBS
29.6MTR, CTH
3
Show member pathways
flavin biosynthesis IV (mammalian)38
molybdenum cofactor biosynthesis38
coenzyme A biosynthesis38
thiamin salvage III38
alanine biosynthesis III38
thio-molybdenum cofactor biosynthesis38
biotin-carboxyl carrier protein assembly38
9.4MTR, MTHFR, MTRR
4
Show member pathways
choline degradation I38
glycine biosynthesis III38
serine and glycine biosynthesis38
glycine betaine degradation38
glycine biosynthesis38
9.4CTH, CBS, BHMT
5
Show member pathways
9.2MTR, MTRR, AHCY
6
Show member pathways
L-serine degradation38
pentose phosphate pathway (oxidative branch)38
formaldehyde oxidation II (glutathione-dependent)38
9.0MTR, MTHFR, CBS, CTH
7
Show member pathways
cysteine biosynthesis/homocysteine degradation38
8.8CBS, CTH, MTR, AHCY
8
Show member pathways
Vitamin B12 Metabolism38
8.7MTRR, MTHFR, SOD3, AHCY
9
Show member pathways
thioredoxin pathway38
8.5CTH, MTHFR, MTR, SOD3, CBS
10
Show member pathways
creatine-phosphate biosynthesis38
glycine degradation (creatine biosynthesis)38
putrescine biosynthesis III38
spermidine biosynthesis I38
tryptophan degradation via kynurenine38
spermine biosynthesis38
urea cycle38
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I38
tyrosine degradation I38
L-carnitine biosynthesis38
methylthiopropionate biosynthesis38
2-oxoglutarate decarboxylation to succinyl-CoA38
S-methyl-5-thioadenosine degradation II38
8.0CBS, MTRR, CTH, MTR, BHMT, AHCY
11
Show member pathways
8.0MTR, BHMT, MTRR, CBS, AHCY, CTH
12
Show member pathways
7.7CTH, AHCY, CBS, MTHFR, MTRR, BHMT
13
Show member pathways
One Carbon Metabolism38
dTMP de novo biosynthesis (mitochondrial)38
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate38
Trans-sulfuration and one carbon metabolism38
methionine salvage38
Methionine metabolism60
7.5MTHFR, FOLH1, AHCY, MTRR, MTR, BHMT

Compounds for genes affiliated with Hyperhomocysteinemia

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45Novoseek, 24HMDB, 51PharmGKB, 29IUPHAR, 11DrugBank
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Compounds related to Hyperhomocysteinemia according to GeneCards/GeneDecks:

(show top 50)    (show all 77)
idCompoundScoreTop Affiliating Genes
1methyl-group4510.1MTHFR, MTR
25-Methyltetrahydrofolic acid2410.1MTR, MTHFR
3vitamin b-complex, plain5110.1MTRR, MTHFR
4L-Cystathionine2410.0CTH, CBS
5propargylglycine45 2911.0CBS, CTH
6cob(ii)alamin45 2411.0MTRR, MTR
7Selenocystathionine2410.0CBS, CTH
8Cob(I)alamin249.9MTR, MTRR
95,10-methenyltetrahydrofolate459.9CBS, MTR, MTHFR
10Pyridoxine24 1110.9MTHFR, CBS
11Selenohomocysteine249.8CBS, AHCY
12hydroxocobalamin45 1110.8MTR, MTRR, MTHFR
13cyanocobalamin51 24 1111.8MTR, MTRR, MTHFR
14tetrahydrofolate459.8MTR, MTRR, MTHFR
15riboflavin45 24 1111.8MTHFR, MTRR, BHMT
16L-Methionine24 1110.7BHMT, MTRR, MTR
17adenosylcobalamin45 2410.7MTHFR, MTR
18homocysteine thiolactone459.6MTR, AHCY
19Pyridoxal 5'-phosphate249.6MTHFR, CTH, CBS
20b vitamins459.5MTHFR, MTRR, CBS, MTR
21methylcobalamin45 2410.5CBS, MTHFR, MTRR, MTR
22methylmalonic acid45 2410.5MTRR, MTR, MTHFR, CBS
23cobalamin45 2410.5MTR, MTRR, MTHFR, CBS
24pyridoxal 5-phosphate459.4CBS, CTH, MTHFR, MTR
25thymidylate459.4MTRR, MTR, MTHFR, CBS
26purine45 2410.3AHCY, CBS, MTHFR, MTR
27methotrexate51 45 1111.2MTR, MTRR, MTHFR, FOLH1, CBS
28betaine45 2410.2MTHFR, MTRR, CBS, BHMT, MTR
29uric acid45 2410.0SOD3, F5, MTHFR
30s-adenosylhomocysteine45 2410.0MTR, MTRR, MTHFR, AHCY, CBS
315-methyltetrahydrofolate45 119.9MTHFR, F5, MTR, MTRR, CBS
32histidine458.9CBS, FOLH1, MTR, HRG
33aspartate458.8MTRR, FOLH1, MTHFR, MTR, F5
34s-adenosylmethionine45 24 1110.6BHMT, MTR, MTRR, MTHFR, CBS, AHCY
35nadph45 249.6SOD3, MTR, MTHFR, MTRR
36fibrinogen458.6F5, MTHFR, HRG, CBS
37vitamin b6458.5F5, MTHFR, MTR, BHMT, CBS, CTH
38vitamin b12458.3F5, BHMT, MTR, FOLH1, MTHFR, CBS
39alanine458.2MTRR, SOD3, FOLH1, CTH, F5, MTHFR
40zinc45 249.2HRG, BHMT, FOLH1, CBS, SOD3, MTR
41nitric oxide45 24 1110.1CTH, SOD3, CBS, MTRR, MTR, F5
42glutamate458.1F5, MTRR, CTH, FOLH1, MTR, CBS
43cystathionine458.1F5, BHMT, MTR, MTRR, MTHFR, CBS
44arginine457.8AHCY, HRG, CBS, F5, SOD3
45methionine457.7MTRR, BHMT, MTR, SOD3, MTHFR, CTH
46copper45 248.4HRG, FOLH1, MTR, AHCY, SOD3, F5
47homocysteine45 247.8SOD3, CTH, F5, BHMT, CBS, FOLH1
48folate456.8CTH, F5, BHMT, MTR, MTRR, MTHFR
49serine456.4CTH, HRG, SOD3, FOLH1, MTHFR, F5
50cysteine456.3MTR, F5, CTH, BHMT, HRG, MTHFR

GO Terms for genes affiliated with Hyperhomocysteinemia

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16Gene Ontology
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Cellular components related to Hyperhomocysteinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310939.0HRG, F5
2cytosolGO:0058296.9CTH, AHCY, SOD3, CBS, MTHFR, MTRR

Biological processes related to Hyperhomocysteinemia according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1homocysteine metabolic processGO:05066710.0CBS, MTHFR
2transsulfurationGO:0193469.9CTH, CBS
3hydrogen sulfide biosynthetic processGO:0708149.9CTH, CBS
4response to folic acidGO:0515939.9MTHFR, CBS
5folic acid metabolic processGO:0466559.8MTHFR, MTRR
6methionine biosynthetic processGO:0090869.7MTRR, BHMT, MTHFR
7water-soluble vitamin metabolic processGO:0067679.6MTR, MTRR, MTHFR
8blood circulationGO:0080159.6MTHFR, F5
9vitamin metabolic processGO:0067669.5MTRR, MTR, MTHFR
10methylationGO:0322599.4MTR, AHCY, MTRR
11cobalamin metabolic processGO:0092359.4MTRR, MTR
12xenobiotic metabolic processGO:0068059.1MTR, MTRR, AHCY
13sulfur amino acid metabolic processGO:0000968.3CTH, BHMT, MTR, MTRR, CBS, AHCY
14cellular nitrogen compound metabolic processGO:0346418.3AHCY, CBS, MTRR, MTR, BHMT, CTH
15small molecule metabolic processGO:0442818.0MTR, AHCY, CBS, MTHFR, MTRR, BHMT

Molecular functions related to Hyperhomocysteinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1modified amino acid bindingGO:0723419.9CBS, MTHFR
2homocysteine S-methyltransferase activityGO:0088989.9BHMT, MTR
3NADP bindingGO:0506619.8MTHFR, MTRR
4flavin adenine dinucleotide bindingGO:0506609.8MTHFR, MTRR
5pyridoxal phosphate bindingGO:0301709.4CBS, CTH
6copper ion bindingGO:0055079.2F5, SOD3

Products for genes affiliated with Hyperhomocysteinemia

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Sources for Hyperhomocysteinemia

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet