MCID: AMY004
MIFTS: 68

Amyloidosis malady

Genetic diseases, Metabolic diseases, Rare diseases, Immune diseases, Neuronal diseases, Nephrological diseases, Bone diseases, Blood diseases, Cancer diseases categories
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Summaries for Amyloidosis

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MedlinePlus:33 Amyloidosis occurs when abnormal proteins called amyloids build up and form deposits. the deposits can collect in organs such as the kidney and heart. this can cause the organs to become stiff and unable to work the way they should. there are three main types of amyloidosis: primary - with no known cause secondary - caused by another disease, including some types of cancer familial - passed down through genes symptoms can vary, depending upon which organs are affected. treatment depends on the type of amyloidosis you have. the goal is to help with symptoms and limit the production of proteins. if another disease is the cause, it needs to be treated.

MalaCards based summary: Amyloidosis, also known as amyloid disease, is related to transthyretin amyloidosis and hereditary amyloidosis, and has symptoms including An important gene associated with Amyloidosis is GSN (gelsolin), and among its related pathways are A-beta Uptake and Degradation and A-beta Plaque Formation and APP Metabolism. The drugs acetylcysteine and colchicine and the compounds t-boc-flflf and fmet-ile-val-thr-leu-phe have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and kidney, and related mouse phenotypes are endocrine/exocrine gland and hematopoietic system.

Disease Ontology:8 An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues.

Wikipedia:65 In medicine, amyloidosis is a rare disease that results from accumulation of inappropriately folded... more...

Aliases & Classifications for Amyloidosis

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Amyloidosis, Aliases & Descriptions:

Name: Amyloidosis 8 10 44 33 62
 
Amyloid Disease 8 62


Classifications:



External Ids:

Disease Ontology8 DOID:9120
NCIt39 C2868
MeSH34 D000686
ICD9CM27 277.30, 277.3

Related Diseases for Amyloidosis

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Diseases in the Amyloidosis family:

Al Amyloidosis Amyloidosis Aa
Hereditary Amyloidosis Primary Localized Amyloidosis

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

(show top 50)    (show all 521)
idRelated DiseaseScoreTop Affiliating Genes
1transthyretin amyloidosis31.8APOA1, TTR, GSN
2hereditary amyloidosis31.6GSN, APOA1, TTR
3familial mediterranean fever31.4GSN, SAA1
4familial visceral amyloidosis31.2FGA, LYZ, APOA1
5finnish type amyloidosis31.1GSN, TTR
6nephrotic syndrome31.0B2M, FGA, APOA1
7amyloidosis, secondary30.8TTR, B2M, APOA1, SAA1
8polyneuropathy30.8APOA2, TTR, GSN
9carpal tunnel syndrome30.8B2M, TTR
10cerebral amyloid angiopathy30.7CST3, TTR, APP
11alzheimer's disease30.5TTR, FPR2, GSN, CST3, APP
12rheumatoid arthritis30.5CST3, SAA1, APOA1, B2M, FPR2
13thromboembolism30.3FGA, APOA1
14amyloid neuropathy30.1GSN, TTR, APOA1
15amyloidosis, renal29.9APOA2, SAA1, TTR, APOA1
16proteinuria29.9FGA, CST3, APOA2, TTR, B2M, APOA1
17leukemia29.9TTR, B2M, FGA, OSMR, LYZ, GSN
18deficiency anemia29.8B2M, SAA1, TTR
19hypoalphalipoproteinemia29.8APOA2, APOA1
20sepsis29.5FPR1, FGA, CST3, TTR, GSN
21chronic kidney failure29.5CST3, FGA, TTR, B2M, APOA1
22diabetes mellitus29.3APOA2, APOA1, CST3, B2M, FGA
23insulin resistance29.3APOA1, TTR, APOA2, SAA1
24amyloid tumor29.3GSN, APOA2, CST3, APP, B2M, TTR
25atherosclerosis29.2CST3, FGA, APOA1, APOA2, SAA1
26myocardial infarction29.0APOA2, SAA1, APOA1, CST3, FGA
27al amyloidosis11.1
28cerebritis10.7
29macular amyloidosis10.7
30primary cutaneous amyloidosis10.7
31myeloma10.7
32arthritis10.7
33multiple myeloma10.7
34hereditary cerebral hemorrhage with amyloidosis10.7
35primary localized amyloidosis10.7
36cerebral hemorrhage10.6
37lichen amyloidosis10.6
38senile systemic amyloidosis10.6
39factor x deficiency10.6
40familial amyloidosis, finnish type10.6
41spiradenoma10.5LYZ
42hepatitis10.5
43macroglossia10.5
44neuropathy10.4
45light chain deposition disease10.4
46glomerulonephritis10.4
47amyloidosis aa10.4
48castleman's disease10.4
49nodular cutaneous amyloidosis10.4
50multiple endocrine neoplasia10.4

Graphical network of the top 20 diseases related to Amyloidosis:



Diseases related to amyloidosis

Symptoms for Amyloidosis

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HPO human phenotypes related to Amyloidosis:

(show all 22)
id Description Frequency HPO Source Accession
1 everted lower lip vermilion hallmark (90%) HP:0000232
2 abnormality of the pinna hallmark (90%) HP:0000377
3 cutis laxa hallmark (90%) HP:0000973
4 corneal dystrophy hallmark (90%) HP:0001131
5 generalized hyperpigmentation hallmark (90%) HP:0007440
6 aplasia/hypoplasia of the skin hallmark (90%) HP:0008065
7 facial palsy hallmark (90%) HP:0010628
8 abnormality of immune system physiology hallmark (90%) HP:0010978
9 palpebral edema hallmark (90%) HP:0100540
10 glomerulopathy hallmark (90%) HP:0100820
11 renal insufficiency typical (50%) HP:0000083
12 nephrotic syndrome typical (50%) HP:0000100
13 abnormality of the cardiovascular system typical (50%) HP:0001626
14 morphological abnormality of the central nervous system typical (50%) HP:0002011
15 abnormality of the abdominal organs typical (50%) HP:0002012
16 abnormality of the ureter occasional (7.5%) HP:0000069
17 hyperkeratosis occasional (7.5%) HP:0000962
18 talipes occasional (7.5%) HP:0001883
19 hernia of the abdominal wall occasional (7.5%) HP:0004299
20 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
21 impaired pain sensation occasional (7.5%) HP:0007328
22 abnormal hair quantity occasional (7.5%) HP:0011362

Drugs & Therapeutics for Amyloidosis

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Drug clinical trials:

Search ClinicalTrials for Amyloidosis

Search NIH Clinical Center for Amyloidosis

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Amyloidosis

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Anatomical Context for Amyloidosis

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MalaCards organs/tissues related to Amyloidosis:

32
Heart, Liver, Kidney, Bone, Bone marrow, Brain, Skin, Colon, B cells, Thyroid, Lung, Breast, Testes, Spinal cord, Tongue, Endothelial, Spleen, Small intestine, Salivary gland, Eye, Lymph node, Tonsil, Pancreatic islet, Prostate, Testis, Myeloid, Monocytes, T cells, Trachea, Neutrophil, Pituitary

Animal Models for Amyloidosis or affiliated genes

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MGI Mouse Phenotypes related to Amyloidosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.8FGA, FPR1, GSN, APOA1, B2M
2MP:00053977.8B2M, OSMR, APOA1, IL31RA, GSN, FPR1
3MP:00053877.6B2M, APOA1, APP, IL31RA, GSN, FPR1
4MP:00053766.1FGA, B2M, TTR, APOA1, APOA2, APP

Publications for Amyloidosis

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Articles related to Amyloidosis:

(show top 50)    (show all 2577)
idTitleAuthorsYear
1
High sensitivity cardiac troponin T in patients with immunoglobulin light chain amyloidosis. (24402772)
2014
2
Topical application of ankaferd hemostat in a patient with gastroduodenal amyloidosis complicated with gastrointestinal bleeding. (23751610)
2013
3
Microbiologically documented infections in patients undergoing high-dose melphalan and autologous stem cell transplantation for the treatment of light chain amyloidosis. (23279695)
2013
4
Chronic renal failure secondary to systemic amyloidosis associated with gastrointestinal stromal tumour. (23897208)
2013
5
Infliximab therapy for familial Mediterranean fever-related amyloidosis: case series with long term follow-up. (22673790)
2012
6
Intestinal amyloidosis with intractable diarrhea and intestinal pseudo-obstruction. (23018539)
2012
7
Tonsil amyloidosis revealing a WaldenstrAPm macroglobulinemia. (22197994)
2012
8
A new c.1845Aa89T of oncostatin M receptor-I^ mutation and slightly enhanced oncostatin M receptor-I^ expression in a Chinese family with primary localized cutaneous amyloidosis. (22062952)
2012
9
Rapidly progressive glomerulonephritis in a patient with renal amyloidosis: Case report and review of the literature. (23326051)
2012
10
A case of psoriasis with secondary amyloidosis, associated symbrachydactyly of the hand and a transverse deficiency of the foot. (22953651)
2012
11
Interaction between periodontal disease and systemic secondary amyloidosis: from inflammation to amyloidosis. (21043797)
2011
12
An unusual presentation of macular amyloidosis. (22068763)
2011
13
Functional correlates of N-terminal natriuretic peptide type B (NT-proBNP) response to therapy in cardiac light chain (AL) amyloidosis. (21838447)
2011
14
Metabolic phenotype in an AL amyloidosis transgenic mouse model. (21838426)
2011
15
Primary localized cutaneous nodular amyloidosis associated with CREST (calcinosis, Raynaud's phenomenon, esophageal motility disorders, sclerodactyly, and telangiectasia) syndrome. (20465653)
2010
16
Hypopigmented macular amyloidosis with or without hyperpigmentation. (19508574)
2009
17
Lichen amyloidosis of the auricular concha: successful treatment with electrodesiccation. (19284460)
2009
18
Identification of an oncostatin M receptor mutation associated with familial primary cutaneous amyloidosis. (19466957)
2009
19
Low erythropoietin production in familial amyloidosis TTR V30M is not related with renal congophilic amyloid deposition. A clinicopathologic study of twelve cases. (18596378)
2008
20
Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. (17469185)
2007
21
Bortezomib in the treatment of AL amyloidosis: targeted therapy? (18024367)
2007
22
Biochemical characterization of vitreous and cardiac amyloid in Ile84Ser transthyretin amyloidosis. (17062384)
2006
23
The formation and role of beta-amyloid peptides in neurons upon amyloidosis]. (16808166)
2006
24
Cardiac conduction alterations in a French family with amyloidosis of the Finnish type with the p.Asp187Tyr mutation in the GSN gene. (16258946)
2006
25
Senile systemic amyloidosis presenting with heart failure: a comparison with light chain-associated amyloidosis. (15983293)
2005
26
Cytokeratin expression in lichen amyloidosus and macular amyloidosis. (15096140)
2004
27
Metachronous development of nonamyloidogenic [lambda] light chain deposition disease and IgG heavy chain amyloidosis in the same patient. (14576484)
2003
28
Clinical and pathological studies of cardiac amyloidosis in transthyretin type familial amyloid polyneuropathy. (14986482)
2003
29
Diagnosis and treatment of Al amyloidosis. (16224395)
2003
30
Identification of a novel transthyretin Thr59Lys/Arg104His. A case of compound heterozygosity in a Chinese patient diagnosed with familial transthyretin amyloidosis. (12440486)
2002
31
Primary localized amyloidosis of the bladder: experience with dimethyl sulfoxide therapy. (12187212)
2002
32
Translocation T(4;14)(p16.3;q32) is a recurrent genetic lesion in primary amyloidosis. (11337357)
2001
33
Effect of hemodialysis membranes on beta 2-microglobulin amyloidosis. (11264777)
2001
34
A novel single-nucleotide polymorphism at the 5'-flanking region of SAA1 associated with risk of type AA amyloidosis secondary to rheumatoid arthritis. (11407685)
2001
35
Primary localized amyloidosis of the ureter and bladder managed by ileal interposition. (10708151)
2000
36
Distribution pattern of matrix metalloproteinases 1, 2, 3, and 9, tissue inhibitors of matrix metalloproteinases 1 and 2, and alpha 2-macroglobulin in cases of generalized AA- and AL amyloidosis. (11147173)
2000
37
Hereditary renal amyloidosis associated with variant lysozyme in a large English family. (10534505)
1999
38
Poor recovery and short survival of infused factor X in a case of acquired factor X deficiency and amyloidosis. (10544941)
1999
39
Treatment of AL amyloidosis with 4'-lodo-4'-deoxydoxorubicin: an update. (10025983)
1999
40
Obstructive sleep apnoea syndrome in hereditary gelsolin-related amyloidosis. (10389096)
1999
41
Local synthesis of amyloid fibril precursor in AL amyloidosis of the urinary tract. (9547006)
1998
42
Apolipoprotein E is present in primary localized cutaneous amyloidosis. (9740234)
1998
43
Transthyretin Ile 122 and cardiac amyloidosis in African-Americans. 2 case reports. (9068139)
1997
44
Expression of serum amyloid A genes in mink during induction of inflammation and amyloidosis. (8268220)
1993
45
Primary localized amyloidosis of the renal pelvis coexisting with transitional cell carcinoma: a case report. (1632328)
1992
46
Amyloidosis of the vitreous body. Possibilities of diagnosis]. (1786932)
1991
47
Severe secondary amyloidosis in a dog with dermatomyositis. (2474585)
1989
48
Generalized amyloidosis secondary to xanthogranulomatous pyelonephritis. (3816863)
1986
49
Secondary amyloidosis due to Schistosoma mansoni infection. (1247859)
1976
50
Amyloidosis associated with primary agammaglobulinemia, severe diarrhea and familial hypogammaglobulinemia. (4182999)
1969

Variations for Amyloidosis

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Expression for genes affiliated with Amyloidosis

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Expression patterns in normal tissues for genes affiliated with Amyloidosis

Search GEO for disease gene expression data for Amyloidosis.

Pathways for genes affiliated with Amyloidosis

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Pathways related to Amyloidosis according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8APP, FPR2
29.6APP, CST3
3
Show member pathways
Vitamin B12 Metabolism37
9.6SAA1, APOA1
4
Show member pathways
9.5FGA, APP, APOA1
59.5APP, SAA1
69.4APOA2, APOA1
79.4APOA2, APOA1
8
Show member pathways
9.4APOA1, APOA2
9
Show member pathways
9.1FPR2, APP, SAA1
10
Show member pathways
9.1TTR, APOA1, APOA2
11
Show member pathways
8.7FPR1, FPR2, SAA1, APP
12
Show member pathways
7.2LYZ, GSN, CST3, TTR, SAA1, APP
13
Show member pathways
7.1FGA, FPR1, FPR2, APP, APOA2, APOA1
146.4LYZ, SAA1, CST3, FGA, GSN, APP

Compounds for genes affiliated with Amyloidosis

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Compounds related to Amyloidosis according to GeneCards/GeneDecks:

(show top 50)    (show all 89)
idCompoundScoreTop Affiliating Genes
1t-boc-flflf2810.1FPR2, FPR1
2fmet-ile-val-thr-leu-phe2810.1FPR2, FPR1
3fmet-leu-phe2810.1FPR2, FPR1
4boc-mlf6110.0FPR2, FPR1
5wkymvm61 2811.0FPR2, FPR1
6wrw46110.0FPR2, FPR1
7mmk 16110.0FPR1, FPR2
8cyclosporin h44 2811.0FPR2, FPR1
9fmet-met-tyr-ala-leu-phe289.9FPR2, FPR1
10annexin i-(2-26)289.9FPR2, FPR1
11ginkgo449.9TTR, APP
12potassium permanganate449.9B2M, TTR
1325-hydroxyvitamin d449.8B2M, APOA1, TTR
1451-cr-edta449.7B2M, CST3
15an 69449.6FGA, B2M
16thioflavin t449.6TTR, GSN, B2M, APP
17polysulfone449.6B2M, FGA, CST3
18kininogen449.5CST3, APP, APOA1
19mspi449.5APOA2, APOA1, TTR
20latex449.4FGA, GSN, CST3
21cellulose acetate449.4FGA, TTR, B2M, CST3
22iohexol449.4CST3, FGA, B2M, APOA1
23uric acid44 2410.3APOA1, TTR, B2M, CST3
24aspirin44 50 28 2412.3APP, FGA, FPR2, APOA1, TTR
25captopril44 61 50 28 1113.3B2M, CST3, APP, APOA1
26endotoxin449.3FGA, FPR1, GSN, SAA1
27folate449.2APP, TTR, B2M, CST3
28valine449.1B2M, SAA1, APP, TTR
29testosterone44 61 24 1112.1GSN, TTR, APOA1, APP, B2M
30pge2449.0B2M, FPR2, FPR1, FGA, APOA1
31lactate449.0B2M, TTR, APOA1, CST3, FGA
32vitamin a44 24 1111.0APP, TTR, B2M, CST3, APOA1
33vitamin b12449.0FPR1, CST3, APOA1, B2M, TTR
34cyclosporin a44 28 6110.9B2M, TTR, APP, CST3, FPR1
35aspartate448.8APOA1, APP, CST3, GSN, B2M, TTR
36methionine448.8TTR, APOA2, CST3, GSN
37creatinine448.7APOA1, TTR, CST3, B2M, APP, FGA
38heparin44 28 24 1111.7FGA, APOA2, APP, GSN, FPR1
39leucine448.5FPR1, TTR, APOA2, CST3, GSN
40glutamine448.5B2M, CST3, APP, TTR, APOA2
41dexamethasone44 50 28 1111.1TTR, APOA1, APP, SAA1, CST3, FPR1
42retinoic acid44 249.1APP, GSN, FPR1, TTR, APOA1, APOA2
43arginine447.9TTR, APP, SAA1, CST3, APOA2
44alanine447.8APP, APOA1, TTR, B2M, GSN, CST3
45glucose447.7CST3, SAA1, APOA2, TTR, B2M, GSN
46fibrinogen447.5FGA, FPR1, GSN, CST3, SAA1, APOA2
47cholesterol44 28 24 1110.3APP, APOA2, APOA1, TTR, B2M, CST3
48calcium44 50 24 1110.2FGA, FPR2, B2M, SAA1, CST3, GSN
49lipid447.0FPR2, APOA1, APOA2, APP, SAA1, CST3
50serine446.9FPR1, GSN, APOA2, CST3, TTR, B2M

GO Terms for genes affiliated with Amyloidosis

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Cellular components related to Amyloidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle lumenGO:0716829.6SAA1, APOA1
2spherical high-density lipoprotein particleGO:0343669.4APOA1, APOA2
3very-low-density lipoprotein particleGO:0343619.3APOA1, APOA2
4blood microparticleGO:0725629.0APOA1, FGA, GSN, APOA2
5high-density lipoprotein particleGO:0343648.9APOA2, SAA1, APOA1
6endoplasmic reticulum lumenGO:0057888.6B2M, APOA2, APOA1
7extracellular spaceGO:0056158.5LYZ, APOA1, TTR, B2M, CST3, FGA
8plasma membraneGO:0058867.8APOA1, B2M, APP, IL31RA, FPR2, FPR1
9extracellular vesicular exosomeGO:0700626.8FGA, GSN, CST3, LYZ, SAA1, APP
10extracellular regionGO:0055766.6FGA, B2M, TTR, APOA1, APOA2, APP

Biological processes related to Amyloidosis according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1platelet degranulationGO:0025769.8APOA1, FGA, APP
2negative regulation of very-low-density lipoprotein particle remodelingGO:0109039.7APOA1, APOA2
3negative regulation of lipase activityGO:0601929.7APOA2, APOA1
4regulation of intestinal cholesterol absorptionGO:0303009.7APOA2, APOA1
5protein oxidationGO:0181589.7APOA2, APOA1
6negative regulation of cytokine secretion involved in immune responseGO:0027409.7APOA1, APOA2
7high-density lipoprotein particle assemblyGO:0343809.6APOA1, APOA2
8high-density lipoprotein particle clearanceGO:0343849.6APOA2, APOA1
9peptidyl-methionine modificationGO:0182069.6APOA1, APOA2
10positive regulation of cholesterol esterificationGO:0108739.6APOA2, APOA1
11phospholipid effluxGO:0337009.5APOA1, APOA2
12high-density lipoprotein particle remodelingGO:0343759.5APOA2, APOA1
13retina homeostasisGO:0018959.5B2M, LYZ
14reverse cholesterol transportGO:0436919.4APOA1, APOA2
15retinoid metabolic processGO:0015239.4APOA2, APOA1, TTR
16cholesterol effluxGO:0333449.4APOA2, APOA1
17lipoprotein metabolic processGO:0421579.4APOA2, APOA1
18cholesterol metabolic processGO:0082039.3APOA1, APP, APOA2
19phototransduction, visible lightGO:0076039.3APOA2, APOA1, TTR
20phosphatidylcholine biosynthetic processGO:0066569.3APOA1, APOA2
21platelet activationGO:0301689.3APP, SAA1, FGA, APOA1

Molecular functions related to Amyloidosis according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1N-formyl peptide receptor activityGO:0049829.8FPR1, FPR2
2apolipoprotein receptor bindingGO:0341909.6APOA2, APOA1
3high-density lipoprotein particle receptor bindingGO:0706539.6APOA1, APOA2
4phosphatidylcholine-sterol O-acyltransferase activator activityGO:0602289.5APOA2, APOA1
5lipase inhibitor activityGO:0551029.5APOA2, APOA1
6high-density lipoprotein particle bindingGO:0080359.5APOA2, APOA1
7cholesterol transporter activityGO:0171279.4APOA2, APOA1
8cholesterol bindingGO:0154859.4APOA2, APOA1
9beta-amyloid bindingGO:0015409.4CST3, APOA1
10identical protein bindingGO:0428029.1APP, B2M, TTR, APOA1, LYZ
11protein bindingGO:0055156.7TTR, FGA, FPR1, GSN, CST3, B2M

Products for genes affiliated with Amyloidosis

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Sources for Amyloidosis

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet