MCID: PLY018
MIFTS: 58

Polycythemia malady

Genetic diseases, Immune diseases, Blood diseases, Rare diseases categories

Aliases & Classifications for Polycythemia

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Sources:
60UMLS, 9Disease Ontology, 11DISEASES, 43Novoseek, 55SNOMED-CT, 38NCIt, 33MeSH
See all sources

Polycythemia, Aliases & Descriptions:

Name: Polycythemia 9 11 43 60
Polycythemia Vera 60
 
Erythrocythemia 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Immune diseases, Blood diseases


External Ids:

Disease Ontology9 DOID:8432
NCIt38 C26863
MeSH33 D011086

Summaries for Polycythemia

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Wikipedia:63 Polycythemia (also known as polycythaemia or polyglobulia) is a disease state in which the proportion of... more...

MalaCards based summary: Polycythemia, also known as polycythemia vera, is related to myelofibrosis and primary polycythemia. An important gene associated with Polycythemia is CD177 (CD177 molecule), and among its related pathways are G protein signaling K RAS regulation pathway and Immune response Oncostatin M signaling via JAK Stat in human cells. The drugs busulfan and hydroxyurea and the compounds pp 100 and erex have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid, and related mouse phenotypes are liver/biliary system and skeleton.

Related Diseases for Polycythemia

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Diseases in the Polycythemia family:

Polycythemia Due to Hypoxia Primary Polycythemia
Acquired Polycythemia Autosomal Dominant Secondary Polycythemia

Diseases related to Polycythemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 247)
idRelated DiseaseScoreTop Affiliating Genes
1myelofibrosis31.5THPO, EPO, JAK2
2primary polycythemia31.3EPOR, EPO, JAK2
3hemangioblastoma30.9EPOR, EPO
4acquired polycythemia30.9EPOR, EPO, JAK2
5arteriovenous fistula30.5EPO
6purpura30.5THPO
7splenomegaly30.4THPO, MPL, EPO, JAK2
8hypersplenism30.4THPO
9essential thrombocythemia30.2KITLG, IL3, JAK2, EPO, G6PD, MPL
10thalassemia30.2EPO, G6PD
11hemoglobinopathy30.2G6PD, EPO
12chronic myeloproliferative disease30.1THPO, MPL, JAK2
13chronic myelomonocytic leukemia30.0KITLG, JAK2, MPL
14pancytopenia29.6IL3, EPO, MPL, THPO
15myeloma29.5EPOR, EPO, JAK2, IL3, KITLG
16polycythemia vera29.5CD177, KITLG, IL3, ITGB3, JAK2, EPO
17thrombocytosis29.5CD177, KITLG, IL3, JAK2, EPO, EPOR
18sarcoma29.5THPO, JAK2, KITLG
19adenocarcinoma29.4PTPN6, SOCS3, EPOR, JAK2, KITLG
20myeloid leukemia29.4THPO, PTPN6, MPL, SOCS3, JAK2, IL3
21thrombocytopenia29.3THPO, MPL, EPO, ITGB3, IL3, KITLG
22refractory anemia28.8KITLG, IL3, JAK2, EPO, EPOR, MPL
23leukemia28.8THPO, CD177, KITLG, IL3, ITGB3, JAK2
24myelodysplastic syndrome28.7IL3, JAK2, EPO, EPOR, MPL, THPO
25hypermanganesemia with dystonia, polycythemia, and cirrhosis10.5
26thrombocythemia 110.5THPO
27pyruvate kinase deficiency10.4G6PD
28stress polycythemia10.4
29endotheliitis10.4
30lysinuric protein intolerance10.4G6PD
31cerebritis10.4
32bone marrow cancer10.4MPL, JAK2
33budd-chiari syndrome10.3
34paraganglioma10.3
35pseudopolycythaemia10.3
36hypoxia10.3
37thrombocytopenia due to platelet alloimmunization10.3THPO, MPL
38transient erythroblastopenia of childhood10.3EPO, KITLG
39erythropoietin polycythemia10.3
40microcytic anemia10.3EPO, G6PD
41leukemoid reaction10.3IL3
42hepatitis10.3
43systemic mastocytosis10.3JAK2, KITLG
44thalassemia, hispanic gamma-delta-beta10.2EPO, G6PD
45erythromelalgia10.2
46dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease10.2
47chronic neutrophilic leukemia10.2
48hepatoblastoma10.2THPO, MPL, EPOR
49sickle cell disease10.2G6PD, EPOR, EPO
50diamond-blackfan anemia10.2EPO, IL3

Graphical network of the top 20 diseases related to Polycythemia:



Diseases related to polycythemia

Symptoms for Polycythemia

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Drugs & Therapeutics for Polycythemia

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Drug clinical trials:

Search ClinicalTrials for Polycythemia

Search NIH Clinical Center for Polycythemia

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Polycythemia

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Anatomical Context for Polycythemia

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MalaCards organs/tissues related to Polycythemia:

31
Bone, Bone marrow, Myeloid, Endothelial, Neutrophil, Liver, Lung, Testes, Heart, Kidney, T cells, B cells, Spinal cord, Prostate, Whole blood, Spleen, Brain, Cortex, Cerebellum, Skin, Placenta, Testis, Monocytes, Fetal brain, Adrenal cortex

Animal Models for Polycythemia or affiliated genes

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Publications for Polycythemia

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Articles related to Polycythemia:

(show top 50)    (show all 946)
idTitleAuthorsYear
1
Long-term survival and blast transformation in molecularly annotated essential thrombocythemia, polycythemia vera, and myelofibrosis. (25037629)
2014
2
How I treat Polycythemia vera. (25278584)
2014
3
Concomitant JAK2 V617F-positive polycythemia vera and B-cell chronic lymphocytic leukemia in three patients originating from two separate hematopoietic stem cells. (23280542)
2013
4
A phase 2 study of ruxolitinib, an oral JAK1 and JAK2 inhibitor, in patients with advanced polycythemia vera who are refractory or intolerant to hydroxyurea. (24258498)
2013
5
Macrophages support pathological erythropoiesis in polycythemia vera and I^-thalassemia. (23502961)
2013
6
Paraneoplastic symptoms: cachexia, polycythemia, and hypercalcemia are, respectively, related to vascular endothelial growth factor (VEGF) expression in renal clear cell carcinoma. (22534085)
2013
7
Polycythemia vera: current pharmacotherapy and future directions. (23480062)
2013
8
Acute embolic cerebral ischemia as an initial presentation of polycythemia vera: a case report. (23683307)
2013
9
Impending anterior ischemic optic neuropathy with elements of retinal vein occlusion in a patient on interferon for polycythemia vera. (23152654)
2012
10
Limitations of Cerebral Oxygenation Monitoring by Near-Infrared Spectroscopy in Children With Cyanotic Congenital Heart Disease and Profound Polycythemia. (23089260)
2012
11
Detection of JAK2 mutations in paraffin marrow biopsies by high resolution melting analysis: identification of L611S alone and in cis with V617F in polycythemia vera. (22642932)
2012
12
Evaluation of hemostatic balance in blood from patients with polycythemia vera by means of thromboelastography: the effect of isovolemic erythrocytapheresis. (22098131)
2012
13
Cerebral infarction due to smoker's polycythemia. (22675101)
2011
14
Extent of hematopoietic involvement by TET2 mutations in JAK2Va8PA^a8^F polycythemia vera. (21273266)
2011
15
Reversible abnormal functional neuroimaging presentations in polycythemia vera with chorea. (21559940)
2011
16
Loss of JAK2 regulation via a heterodimeric VHL-SOCS1 E3 ubiquitin ligase underlies Chuvash polycythemia. (21685897)
2011
17
Partial exchange transfusion for polycythemia hyperviscosity syndrome. (21365533)
2011
18
Twin anemia polycythemia sequence from a prenatal perspective. (20373492)
2010
19
Hematological characteristics in neonates with twin anemia-polycythemia sequence (TAPS). (20087909)
2010
20
Extreme polycythemia in recipient twin with twin-to-twin transfusion syndrome: a case report. (19372698)
2009
21
Polycythemia and chorea. (19139620)
2009
22
The presence of JAK2V617F in primary myelofibrosis or its allele burden in polycythemia vera predicts chemosensitivity to hydroxyurea. (18266209)
2008
23
Sustained major molecular response on interferon alpha-2b in two patients with polycythemia vera. (18481066)
2008
24
Do preoperative anemia and polycythemia affect clinical outcome in patients undergoing major surgery? (17940515)
2008
25
Recurrent thrombosis in patients with polycythemia vera and essential thrombocythemia: incidence, risk factors, and effect of treatments. (18268279)
2008
26
JAK2 617V>F positive polycythemia rubra vera maintained by approximately 18 stochastic stem-cell divisions per year, explaining age of onset by a single rate-limiting mutation. (17452518)
2007
27
Identification of JAK2V617F in patients with polycythemia is highly correlated with conventional criteria for diagnosis of polycythemia vera. (16924638)
2007
28
JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. (17267906)
2007
29
Polycythemia vera is not initiated by JAK2V617F mutation. (17198871)
2007
30
Polycythemia vera and JAK-2 mutation in childhood: a case report]. (17693067)
2007
31
A higher JAK2 V617F-mutated clone is observed in platelets than in granulocytes from essential thrombocythemia patients, but not in patients with polycythemia vera and primary myelofibrosis. (17361221)
2007
32
Anticoagulation after coronary artery surgery in patients with polycythemia vera: report of two cases. (17803581)
2007
33
Hematopoietic cell transplantation as curative therapy for idiopathic myelofibrosis, advanced polycythemia vera, and essential thrombocythemia. (17317589)
2007
34
Elevated serum erythropoietin levels in patients with Budd-Chiari syndrome secondary to polycythemia vera: clinical implications for the role of JAK2 mutation analysis. (16827884)
2006
35
Minimal molecular response in polycythemia vera patients treated with imatinib or interferon alpha. (16352805)
2006
36
Vascular complications in Chuvash polycythemia. (16673284)
2006
37
Subarachnoid hemorrhage and diplopia as initial presentation of polycythemia vera. (15761220)
2005
38
Karyotype and molecular cytogenetic studies in polycythemia vera. (15865876)
2005
39
Bone marrow histopathology and biological markers as specific clues to the differential diagnosis of essential thrombocythemia, polycythemia vera and prefibrotic or fibrotic agnogenic myeloid metaplasia. (15048058)
2004
40
The rate of progression to polycythemia vera or essential thrombocythemia in patients with erythrocytosis or thrombocytosis. (13679323)
2003
41
Posttranslational processing of the thrombopoietin receptor is impaired in polycythemia vera. (10515857)
1999
42
Historical perspective on the treatment of essential thrombocythemia and polycythemia vera. (9930553)
1999
43
Interleukin-10 inhibits erythropoietin-independent growth of erythroid bursts in patients with polycythemia vera. (9731054)
1998
44
Pathogenesis of polycythemia vera. (9549927)
1998
45
Increased basal and induced tyrosine phosphorylation of the insulin-like growth factor I receptor beta subunit in circulating mononuclear cells of patients with polycythemia vera. (7542500)
1995
46
Megakaryoblastic transformation associated with disseminated intravascular coagulation in the course of polycythemia vera: a case report]. (1602615)
1992
47
Polycythemia vera terminating in chronic neutrophilic leukemia: report of a case. (2399908)
1990
48
Stress polycythemia. (3837011)
1985
49
Hemoglobin Palmerston North beta 23 (B5) Val replaced by Phe. A new variant identified in a patient with polycythemia. (7161106)
1982
50
Polycythemia following folic acid and vitamin B12 treatment of anticonvulsant-induced megaloblastic anemia. (5472894)
1970

Variations for Polycythemia

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Expression for genes affiliated with Polycythemia

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Search GEO for disease gene expression data for Polycythemia.

Pathways for genes affiliated with Polycythemia

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Pathways related to Polycythemia according to GeneCards Suite gene sharing:

(show all 46)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9EPO, EPOR
29.8JAK2, SOCS3
3
Show member pathways
9.8JAK2, SOCS3
49.8JAK2, SOCS3
59.8JAK2, SOCS3
6
Show member pathways
9.8SOCS3, JAK2
79.8SOCS3, JAK2
8
Show member pathways
Paxillin-independent events mediated by a4b1 and a4b736
a4b1 and a4b7 Integrin signaling36
9.6JAK2, EPO, EPOR
99.4PTPN6, SOCS3, JAK2
109.4PTPN6, SOCS3, JAK2
119.4PTPN6, SOCS3, JAK2
129.3KITLG, JAK2, SOCS3
13
Show member pathways
9.2KITLG, JAK2, PTPN6
149.2SOCS3, JAK2, ITGB3
15
Show member pathways
9.1PTPN6, ITGB3, CD177
16
Show member pathways
9.1THPO, MPL, ITGB3
17
Show member pathways
IL-9 Signaling Pathway36
Development Thrombopoietin regulated cell processes58
IL-7 Signaling Pathway36
Immune response IL 9 signaling pathway58
9.1JAK2, SOCS3, MPL, THPO
18
Show member pathways
EPO Receptor Signaling36
EPO signaling pathway36
8.8JAK2, EPO, EPOR, SOCS3, PTPN6
198.7PTPN6, SOCS3, JAK2, ITGB3
20
Show member pathways
8.7THPO, IL3, KITLG
218.7PTPN6, IL3, KITLG
22
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)36
8.6PTPN6, EPOR, EPO, JAK2, KITLG
23
Show member pathways
Development Thrombopoetin signaling via JAK STAT pathway58
8.6THPO, PTPN6, MPL, SOCS3, JAK2
24
Show member pathways
8.5PTPN6, EPOR, EPO, JAK2, ITGB3
258.5PTPN6, SOCS3, JAK2, IL3
26
Show member pathways
8.5IL3, JAK2, SOCS3, PTPN6
27
Show member pathways
8.5IL3, JAK2, SOCS3, PTPN6
28
Show member pathways
Immune response IL 3 activation and signaling pathway58
8.5IL3, JAK2, SOCS3, PTPN6
29
Show member pathways
Development EDNRB signaling58
Development ACM2 and ACM4 activation of ERK58
Cell adhesion Integrin inside out signaling58
Development G Proteins mediated regulation MARK ERK signaling58
Signal transduction IP3 signaling58
Development Angiotensin signaling via PYK258
Development EPO induced MAPK pathway58
8.5EPOR, EPO, JAK2, ITGB3, KITLG
30
Show member pathways
8.4THPO, JAK2, IL3, KITLG
31
Show member pathways
8.4THPO, EPOR, IL3, KITLG
32
Show member pathways
8.4THPO, EPOR, IL3, KITLG
33
Show member pathways
8.4KITLG, IL3, EPOR, THPO
34
Show member pathways
Immune response BCR pathway58
Fc-epsilon receptor I signaling in mast cells36
8.3PTPN6, JAK2, ITGB3, IL3
35
Show member pathways
8.1THPO, PTPN6, MPL, JAK2, ITGB3, CD177
36
Show member pathways
8.1THPO, ITGB3, IL3, KITLG
37
Show member pathways
8.0KITLG, IL3, JAK2, PTPN6, THPO
38
Show member pathways
7.8THPO, EPOR, ITGB3, IL3, KITLG
397.7EPOR, EPO, JAK2, ITGB3, IL3, KITLG
40
Show member pathways
Type III interferon signaling36
7.6IL3, PTPN6, MPL, SOCS3, EPOR, EPO
41
Show member pathways
7.6MPL, SOCS3, EPOR, EPO, JAK2, IL3
427.5THPO, EPOR, EPO, ITGB3, IL3, KITLG
43
Show member pathways
7.5THPO, EPOR, JAK2, ITGB3, IL3, KITLG
44
Show member pathways
7.5THPO, EPOR, JAK2, ITGB3, IL3, KITLG
45
Show member pathways
7.5THPO, EPOR, JAK2, ITGB3, IL3, KITLG
46
Show member pathways
6.5THPO, MPL, SOCS3, EPOR, EPO, JAK2

Compounds for genes affiliated with Polycythemia

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Compounds related to Polycythemia according to GeneCards Suite gene sharing:

(show top 50)    (show all 106)
idCompoundScoreTop Affiliating Genes
1pp 1004310.0EPO, EPOR, JAK2
2erex439.8EPOR, EPO
3megapoietin439.7MPL, THPO
4anagrelide43 1210.6THPO, MPL, JAK2, EPO
5lenalidomide43 1210.4EPO, EPOR, IL3
6pkh 2439.2KITLG, IL3
7mafosfamide439.1THPO, IL3, KITLG
8gf 109203x43 5910.0THPO, KITLG, JAK2, PTPN6
9polyethylene glycol439.0THPO, MPL, G6PD, KITLG
10pixy321438.9THPO, KITLG, IL3, EPO
11amifostine43 129.9THPO, KITLG, EPO, IL3
12filgrastim43 129.9IL3, THPO, EPO, KITLG
13gm-csf43 289.8EPO, KITLG, IL3, THPO
14ribavirin43 49 1210.8IL3, SOCS3, EPO, G6PD
15carboplatin43 49 1210.7EPO, THPO, KITLG, IL3
16methylcellulose438.6THPO, EPOR, EPO, KITLG, IL3
17hydroxyurea43 49 1210.6THPO, KITLG, JAK2, IL3, EPO
18herbimycin a43 599.6PTPN6, JAK2, KITLG, IL3
19phosphotyrosine438.6PTPN6, SOCS3, EPOR, JAK2, IL3
20imatinib43 49 1210.5KITLG, JAK2, EPO, THPO, IL3
21butyrate438.5JAK2, KITLG, IL3, THPO, EPO
22cytarabine43 49 1210.4KITLG, EPO, IL3, THPO, PTPN6
23wortmannin438.4KITLG, THPO, JAK2, IL3, EPOR
24valine438.4IL3, G6PD, PTPN6, JAK2
25iron43 249.4EPO, EPOR, KITLG, THPO, ITGB3, MPL
26nitric oxide43 24 1210.4SOCS3, PTPN6, EPOR, THPO, JAK2, KITLG
27oxygen43 249.3G6PD, THPO, EPO, JAK2, KITLG, EPOR
28lysine438.3ITGB3, KITLG, SOCS3, MPL, THPO, JAK2
29ly294002438.3KITLG, IL3, JAK2, EPO, THPO, EPOR
30aspirin43 49 28 2411.2THPO, MPL, G6PD, KITLG, ITGB3, JAK2
31genistein43 28 59 2 24 1213.2THPO, PTPN6, KITLG, IL3, JAK2
32cisplatin43 49 59 1211.1EPOR, KITLG, G6PD, EPO, IL3, JAK2
33lactate438.1EPO, G6PD, IL3, KITLG, THPO
34rapamycin438.0IL3, THPO, G6PD, JAK2, KITLG, EPO
35actinomycin d438.0EPOR, IL3, KITLG, JAK2, G6PD, THPO
36thymidine43 248.8PTPN6, EPOR, THPO, EPO, KITLG, IL3
375-aza-2deoxycytidine437.8IL3, THPO, PTPN6, SOCS3, EPO, JAK2
38h2o2437.8THPO, PTPN6, G6PD, JAK2, KITLG, IL3
39agar437.7EPOR, THPO, G6PD, MPL, JAK2, KITLG
40vegf437.7EPOR, ITGB3, JAK2, EPO, MPL, PTPN6
41lipid437.7SOCS3, KITLG, PTPN6, EPOR, ITGB3, G6PD
42creatinine437.6THPO, EPO, KITLG, IL3, G6PD
43cysteine437.6ITGB3, JAK2, EPOR, THPO, MPL, IL3
44glucose437.4SOCS3, PTPN6, KITLG, ITGB3, EPOR, JAK2
45gp 130437.1THPO, PTPN6, IL3, KITLG, MPL, EPOR
46phosphatidylinositol437.1IL3, EPO, KITLG, EPOR, SOCS3, MPL
47alanine437.1ITGB3, KITLG, JAK2, EPOR, MPL, PTPN6
48serine436.6ITGB3, KITLG, JAK2, G6PD, EPOR, SOCS3
49estrogen436.6KITLG, ITGB3, THPO, PTPN6, SOCS3, IL3
50tyrosine436.3THPO, PTPN6, MPL, CD177, KITLG, IL3

GO Terms for genes affiliated with Polycythemia

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Biological processes related to Polycythemia according to GeneCards Suite gene sharing:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1erythrocyte maturationGO:00432499.9EPO, G6PD
2positive regulation of Ras protein signal transductionGO:00465799.8KITLG, EPO
3JAK-STAT cascadeGO:00072599.7SOCS3, JAK2
4regulation of interferon-gamma-mediated signaling pathwayGO:00603349.7PTPN6, SOCS3, JAK2
5regulation of type I interferon-mediated signaling pathwayGO:00603389.6PTPN6, SOCS3
6JAK-STAT cascade involved in growth hormone signaling pathwayGO:00603979.6JAK2, SOCS3, PTPN6
7interferon-gamma-mediated signaling pathwayGO:00603339.6JAK2, SOCS3, PTPN6
8positive regulation of cell differentiationGO:00455979.5JAK2, SOCS3
9positive regulation of tyrosine phosphorylation of Stat5 proteinGO:00425239.4EPO, JAK2, IL3
10leukocyte migrationGO:00509009.4CD177, ITGB3, PTPN6
11cytokine-mediated signaling pathwayGO:00192219.4JAK2, SOCS3, PTPN6
12embryonic hemopoiesisGO:00351629.2IL3, KITLG
13platelet activationGO:00301689.2ITGB3, MPL, THPO
14positive regulation of DNA replicationGO:00457409.1EPO, IL3, KITLG
15cell proliferationGO:00082839.0THPO, PTPN6, MPL, KITLG
16positive regulation of cell proliferationGO:00082848.8PTPN6, EPO, JAK2, IL3
17positive regulation of peptidyl-tyrosine phosphorylationGO:00507318.5JAK2, ITGB3, IL3, KITLG
18blood coagulationGO:00075968.4CD177, ITGB3, JAK2, MPL, PTPN6, THPO

Molecular functions related to Polycythemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1SH2 domain bindingGO:00421699.7JAK2, PTPN6
2growth factor activityGO:00080838.6KITLG, IL3, THPO
3cytokine activityGO:00051258.4KITLG, IL3, THPO

Products for genes affiliated with Polycythemia

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Sources for Polycythemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet