QPD
MCID: QBC001
MIFTS: 43

Quebec Platelet Disorder (QPD)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Quebec Platelet Disorder

MalaCards integrated aliases for Quebec Platelet Disorder:

Name: Quebec Platelet Disorder 56 12 74 52 58 73 29 13 54 6 43 15 71
Factor V Quebec 56 12 52 58 73
Bdplt5 56 12 73
Qpd 56 52 73
Bleeding Disorder, Platelet-Type, 5; Bdplt5 56
Bleeding Disorder, Platelet-Type, 5 56
Platelet-Type Bleeding Disorder 5 12
Bleeding Disorder Platelet-Type 5 73
Platelet Disorder, Quebec 39

Characteristics:

Orphanet epidemiological data:

58
quebec platelet disorder
Inheritance: Autosomal dominant;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
bleeding is usually delayed-onset after challenge
good response to fibrinolytic inhibitors
prevalence of 1 in 300,000 in quebec


HPO:

31
quebec platelet disorder:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0111050
OMIM 56 601709
OMIM Phenotypic Series 56 PS231200
MESH via Orphanet 44 C536260
ICD10 via Orphanet 33 D69.1
UMLS via Orphanet 72 C1866423
Orphanet 58 ORPHA220436
MedGen 41 C1866423
UMLS 71 C1866423

Summaries for Quebec Platelet Disorder

OMIM : 56 Quebec platelet disorder is an autosomal dominant bleeding disorder due to a gain-of-function defect in fibrinolysis. Although affected individuals do not exhibit systemic fibrinolysis, they show delayed onset bleeding after challenge, such as surgery. The hallmark of the disorder is markedly increased PLAU levels within platelets, which causes intraplatelet plasmin generation and secondary degradation of alpha-granule proteins. The disorder shows a favorable therapeutic response to fibrinolytic inhibitors (summary by Diamandis et al., 2009). (601709)

MalaCards based summary : Quebec Platelet Disorder, also known as factor v quebec, is related to factor v deficiency and disseminated intravascular coagulation. An important gene associated with Quebec Platelet Disorder is PLAU (Plasminogen Activator, Urokinase), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Adhesion. Affiliated tissues include testes, and related phenotypes are thrombocytopenia and epistaxis

Disease Ontology : 12 An inherited blood coagulation disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degredation that has material basis in heterozygous tandem duplication of the PLAU gene on chromosome 10q22.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 220436 Definition Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds. Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : 73 Quebec platelet disorder: An autosomal dominant bleeding disorder due to a gain-of-function defect in fibrinolysis. Although affected individuals do not exhibit systemic fibrinolysis, they show delayed onset bleeding after challenge, such as surgery. The hallmark of the disorder is markedly increased PLAU levels within platelets, which causes intraplatelet plasmin generation and secondary degradation of alpha-granule proteins.

Wikipedia : 74 Quebec Platelet Disorder (QPD) is a rare, autosomal dominant bleeding disorder described in a family... more...

Related Diseases for Quebec Platelet Disorder

Diseases related to Quebec Platelet Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 factor v deficiency 32.0 F5 F10
2 disseminated intravascular coagulation 29.0 SERPINE1 F5 F10
3 thrombocytopenia 28.1 SPARC SERPINE1 SELP F5 F10
4 blood platelet disease 10.5
5 peptic ulcer disease 10.3
6 buerger disease 10.2 SERPINE1 PLAU
7 coronary thrombosis 10.1 SERPINE1 SELP
8 amaurosis fugax 10.1 SERPINE1 F5
9 sickle cell disease 10.1 SELP ADAMTSL1
10 sticky platelet syndrome 10.1 SERPINE1 F5
11 catastrophic antiphospholipid syndrome 10.0 SERPINE1 F5
12 cryptogenic cirrhosis 10.0 SERPINE1 F5
13 meningococcemia 10.0 SERPINE1 F5
14 ischemic colitis 10.0 SERPINE1 F5
15 factor xiii deficiency 10.0 SERPINE1 F5
16 thrombasthenia 10.0 SELP F5
17 retinal vascular occlusion 9.9 SELP F5
18 chronic venous insufficiency 9.9 SERPINE1 SELP
19 scott syndrome 9.9
20 arteriosclerosis obliterans 9.9 SELP CD63
21 retinal artery occlusion 9.8 SERPINE1 F5
22 arteriosclerosis 9.8 VCL SERPINE1 SELP
23 paranasal sinus disease 9.8 SERPINE1 PLAU
24 post-thrombotic syndrome 9.8 SERPINE1 SELP F5
25 von willebrand's disease 9.8 SELP F5 ADAMTSL1
26 essential thrombocythemia 9.8 SERPINE1 SELP CD63
27 thrombophlebitis 9.8 SERPINE1 SELP F5
28 legg-calve-perthes disease 9.8 SERPINE1 SELP F5
29 portal vein thrombosis 9.8 SERPINE1 SELP F5
30 vein disease 9.8 SERPINE1 SELP F5
31 peripheral vascular disease 9.7 SERPINE1 SELP F5
32 acquired hemophilia 9.7 F5 F10
33 prothrombin deficiency, congenital 9.7 F5 F10
34 protein c deficiency 9.7 SERPINE1 F5
35 factor x deficiency 9.6 F5 F10
36 cerebrovascular disease 9.6 SERPINE1 SELP F5
37 carotid artery thrombosis 9.6 SERPINE1 SELP F10
38 antithrombin iii deficiency 9.6 F5 F10
39 venous insufficiency 9.6 SERPINE1 SELP PLAU F5
40 factor viii deficiency 9.6 F5 F10
41 factor xi deficiency 9.5 F5 F10
42 vascular disease 9.5 SERPINE1 SELP MMRN1 F5
43 thrombophilia due to activated protein c resistance 9.5 SERPINE1 F5 F10
44 protein s deficiency 9.5 SERPINE1 F5 F10
45 thrombophilia due to thrombin defect 9.5 SERPINE1 F5 F10
46 acute myocardial infarction 9.4 SERPINE1 SELP F10
47 hemorrhagic disease 9.4 SERPINE1 F5 F10
48 afibrinogenemia, congenital 9.4 SERPINE1 F5 F10
49 intracranial thrombosis 9.4 SELP F5 F10
50 inherited blood coagulation disease 9.4 SELP F5 F10

Graphical network of the top 20 diseases related to Quebec Platelet Disorder:



Diseases related to Quebec Platelet Disorder

Symptoms & Phenotypes for Quebec Platelet Disorder

Human phenotypes related to Quebec Platelet Disorder:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 31 HP:0001873
2 epistaxis 31 HP:0000421
3 bruising susceptibility 31 HP:0000978
4 menorrhagia 31 HP:0000132
5 joint hemorrhage 31 HP:0005261
6 impaired epinephrine-induced platelet aggregation 31 HP:0008148

Symptoms via clinical synopsis from OMIM:

56
Hematology:
normal platelet morphology
moderate-severe bleeding tendencies (epistaxis, menorrhagia, hemarthrosis, easy bruisability)
thrombocytopenia, mild
mildly decreased to low-normal platelet count (80-150 x 10(9)/l)
bleeding time normal to mildly prolonged
more

Clinical features from OMIM:

601709

Drugs & Therapeutics for Quebec Platelet Disorder

Search Clinical Trials , NIH Clinical Center for Quebec Platelet Disorder

Cochrane evidence based reviews: quebec platelet disorder

Genetic Tests for Quebec Platelet Disorder

Genetic tests related to Quebec Platelet Disorder:

# Genetic test Affiliating Genes
1 Quebec Platelet Disorder 29 PLAU

Anatomical Context for Quebec Platelet Disorder

MalaCards organs/tissues related to Quebec Platelet Disorder:

40
Testes

Publications for Quebec Platelet Disorder

Articles related to Quebec Platelet Disorder:

(show all 36)
# Title Authors PMID Year
1
Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes. 54 61 6 56
18988861 2009
2
Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene. 56 6 61
20007542 2010
3
Bleeding risks associated with inheritance of the Quebec platelet disorder. 56 61 54
15026313 2004
4
Platelets from patients with the Quebec platelet disorder contain and secrete abnormal amounts of urokinase-type plasminogen activator. 61 54 56
11435291 2001
5
An autosomal dominant, qualitative platelet disorder associated with multimerin deficiency, abnormalities in platelet factor V, thrombospondin, von Willebrand factor, and fibrinogen and an epinephrine aggregation defect. 61 54 56
8652809 1996
6
Factor V Quebec revisited. 56 54 61
8611679 1996
7
Quebec platelet disorder: update on pathogenesis, diagnosis, and treatment. 61 6
22102275 2011
8
Studies of a second family with the Quebec platelet disorder: evidence that the degradation of the alpha-granule membrane and its soluble contents are not secondary to a defect in targeting proteins to alpha-granules. 56 61
9028947 1997
9
Factor V (Quebec): a bleeding diathesis associated with a qualitative platelet Factor V deficiency. 61 56
6480825 1984
10
Impaired platelet procoagulant mechanisms in patients with bleeding disorders. 54 61
19408196 2009
11
Increased expression of urokinase plasminogen activator in Quebec platelet disorder is linked to megakaryocyte differentiation. 61 54
19029443 2009
12
Evaluation of urokinase plasminogen activator in urine from individuals with Quebec platelet disorder. 54 61
18600101 2008
13
Intracellular activation of the fibrinolytic cascade in the Quebec Platelet Disorder. 61 54
12888877 2003
14
Platelet factor V New York: a defect in factor V distinct from that in factor V Quebec resulting in impaired prothrombinase generation. 54 61
11421293 2001
15
Platelet prothrombinase activity and intracellular calcium responses in patients with storage pool deficiency, glycoprotein IIb-IIIa deficiency, or impaired platelet coagulant activity--a comparison with Scott syndrome. 54 61
9057642 1997
16
Megakaryocytes and platelets in alpha-granule disorders. 54 61
9154319 1997
17
Management of Quebec Platelet Disorder for Cervical Facet Injections in the Outpatient Setting: A Case Report. 61
32224694 2020
18
Inherited disorders of the fibrinolytic pathway. 61
31427261 2019
19
Erratum: Quebec Platelet Disorder: Update on Pathogenesis, Diagnosis, and Treatment. 61
30641578 2019
20
Thrombopoietin levels in Quebec platelet disorder-Implications for the mechanism of thrombocytopenia. 61
29388746 2018
21
The duplication mutation of Quebec platelet disorder dysregulates PLAU, but not C10orf55, selectively increasing production of normal PLAU transcripts by megakaryocytes but not granulocytes. 61
28301587 2017
22
Laboratory testing for bleeding disorders: strategic uses of high and low-yield tests. 61
23480172 2013
23
Improving blood disorder diagnosis: reflections on the challenges. 61
23480102 2013
24
Proteomics applied to the study of platelet-related diseases: aiding the discovery of novel platelet biomarkers and drug targets. 61
22579745 2012
25
Simultaneous measurement of adenosine triphosphate release and aggregation potentiates human platelet aggregation responses for some subjects, including persons with Quebec platelet disorder. 61
22234747 2012
26
Quebec platelet disorder. 61
21495923 2011
27
Quebec platelet disorder. 61
20688024 2010
28
Current Strategies in Diagnosis of Inherited Storage Pool Defects. 61
21113247 2010
29
Diagnostic assessment of platelet disorders: what are the challenges to standardization? 61
19408186 2009
30
Inherited trombophilic states and pulmonary embolism. 61
21772860 2009
31
The value of proteomics for the diagnosis of a platelet-related bleeding disorder. 61
18791940 2008
32
Quebec platelet disorder: features, pathogenesis and treatment. 61
18277131 2008
33
Insights into abnormal hemostasis in the Quebec platelet disorder from analyses of clot lysis. 61
16689763 2006
34
Antithrombotic thrombocytes: ectopic expression of urokinase-type plasminogen activator in platelets. 61
12689937 2003
35
Fibrinogen degradation products in patients with the Quebec platelet disorder. 61
9163623 1997
36
Inherited disorders of platelet alpha-granules. 61
16793651 1997

Variations for Quebec Platelet Disorder

ClinVar genetic disease variations for Quebec Platelet Disorder:

6 (show top 50) (show all 65) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PLAU NC_000010.9:g.75329022_75406959dupduplication Pathogenic 29921 10:75659016-75736953 10:73899258-73977195
2 PLAU NM_002658.6(PLAU):c.*309T>CSNV Uncertain significance 877647 10:75676632-75676632 10:73916874-73916874
3 PLAU NM_002658.6(PLAU):c.*474G>ASNV Uncertain significance 878666 10:75676797-75676797 10:73917039-73917039
4 PLAU NM_002658.6(PLAU):c.*538G>ASNV Uncertain significance 878667 10:75676861-75676861 10:73917103-73917103
5 PLAU NM_002658.6(PLAU):c.*917G>ASNV Uncertain significance 879265 10:75677240-75677240 10:73917482-73917482
6 PLAU NM_002658.6(PLAU):c.*921T>CSNV Uncertain significance 879266 10:75677244-75677244 10:73917486-73917486
7 PLAU NM_002658.6(PLAU):c.143T>A (p.Ile48Asn)SNV Uncertain significance 880362 10:75672030-75672030 10:73912272-73912272
8 PLAU NM_002658.6(PLAU):c.194A>G (p.Asp65Gly)SNV Uncertain significance 877591 10:75672682-75672682 10:73912924-73912924
9 PLAU NM_002658.6(PLAU):c.735C>A (p.Asn245Lys)SNV Uncertain significance 879208 10:75673792-75673792 10:73914034-73914034
10 PLAU NM_002658.6(PLAU):c.845G>A (p.Arg282His)SNV Uncertain significance 879210 10:75674549-75674549 10:73914791-73914791
11 PLAU NM_002658.5(PLAU):c.-32+9C>GSNV Uncertain significance 300735 rs538342269 10:75670985-75670985 10:73911227-73911227
12 PLAU NM_002658.5(PLAU):c.368+6G>CSNV Uncertain significance 300748 rs186447765 10:75672862-75672862 10:73913104-73913104
13 PLAU NM_002658.5(PLAU):c.581C>A (p.Ala194Glu)SNV Uncertain significance 300749 rs145865648 10:75673417-75673417 10:73913659-73913659
14 PLAU NM_002658.5(PLAU):c.*900A>GSNV Uncertain significance 300778 rs886047213 10:75677223-75677223 10:73917465-73917465
15 PLAU NM_002658.5(PLAU):c.*3G>ASNV Uncertain significance 300762 rs886047208 10:75676326-75676326 10:73916568-73916568
16 PLAU NM_002658.5(PLAU):c.*176G>TSNV Uncertain significance 300766 rs886047209 10:75676499-75676499 10:73916741-73916741
17 PLAU NM_002658.5(PLAU):c.*688C>TSNV Uncertain significance 300774 rs886047211 10:75677011-75677011 10:73917253-73917253
18 PLAU NM_002658.5(PLAU):c.-32G>ASNV Uncertain significance 300734 rs886047205 10:75670976-75670976 10:73911218-73911218
19 PLAU NM_002658.5(PLAU):c.750G>C (p.Gly250=)SNV Uncertain significance 300755 rs886047207 10:75673807-75673807 10:73914049-73914049
20 PLAU NM_002658.5(PLAU):c.-41G>ASNV Uncertain significance 300733 rs886047204 10:75670967-75670967 10:73911209-73911209
21 PLAU NM_002658.5(PLAU):c.316G>C (p.Ala106Pro)SNV Uncertain significance 300747 rs886047206 10:75672804-75672804 10:73913046-73913046
22 PLAU NM_002658.5(PLAU):c.*880T>ASNV Uncertain significance 300777 rs886047212 10:75677203-75677203 10:73917445-73917445
23 PLAU NM_001145031.2(PLAU):c.*935A>GSNV Uncertain significance 300779 rs886047214 10:75677258-75677258 10:73917500-73917500
24 PLAU NM_002658.5(PLAU):c.*631C>TSNV Uncertain significance 300773 rs886047210 10:75676954-75676954 10:73917196-73917196
25 PLAU NM_002658.5(PLAU):c.*753C>TSNV Uncertain significance 300775 rs545559536 10:75677076-75677076 10:73917318-73917318
26 PLAU NM_002658.5(PLAU):c.57+6T>CSNV Likely benign 300741 rs770181188 10:75671376-75671376 10:73911618-73911618
27 PLAU NM_002658.6(PLAU):c.236G>C (p.Arg79Pro)SNV Likely benign 877592 10:75672724-75672724 10:73912966-73912966
28 PLAU NM_002658.6(PLAU):c.453C>T (p.Cys151=)SNV Likely benign 878608 10:75673132-75673132 10:73913374-73913374
29 PLAU NM_002658.5(PLAU):c.172G>A (p.Gly58Arg)SNV Benign/Likely benign 190258 rs55744193 10:75672059-75672059 10:73912301-73912301
30 PLAU NM_002658.5(PLAU):c.162A>G (p.Pro54=)SNV Benign/Likely benign 300743 rs142059320 10:75672049-75672049 10:73912291-73912291
31 PLAU NM_002658.5(PLAU):c.1048T>C (p.Tyr350His)SNV Benign/Likely benign 300758 rs72816325 10:75675086-75675086 10:73915328-73915328
32 PLAU NM_002658.5(PLAU):c.*398C>TSNV Benign 300770 rs190769030 10:75676721-75676721 10:73916963-73916963
33 PLAU NM_002658.5(PLAU):c.-25C>TSNV Benign 300736 rs2227579 10:75671289-75671289 10:73911531-73911531
34 PLAU NM_002658.5(PLAU):c.-18C>ASNV Benign 300738 rs2227555 10:75671296-75671296 10:73911538-73911538
35 PLAU NM_002658.5(PLAU):c.822C>T (p.Asn274=)SNV Benign 300756 rs2227568 10:75673879-75673879 10:73914121-73914121
36 PLAU NM_002658.5(PLAU):c.*60A>CSNV Benign 300764 rs142117323 10:75676383-75676383 10:73916625-73916625
37 PLAU NM_002658.5(PLAU):c.*444T>ASNV Benign 300771 rs145634997 10:75676767-75676767 10:73917009-73917009
38 PLAU NM_002658.5(PLAU):c.111A>G (p.Gly37=)SNV Benign 300742 rs200927138 10:75671998-75671998 10:73912240-73912240
39 PLAU NM_002658.5(PLAU):c.681-7C>TSNV Benign 300752 rs2227566 10:75673731-75673731 10:73913973-73913973
40 PLAU NM_002658.5(PLAU):c.691A>C (p.Lys231Gln)SNV Benign 300753 rs2227567 10:75673748-75673748 10:73913990-73913990
41 PLAU NM_002658.5(PLAU):c.*844deldeletion Benign 300776 rs2227574 10:75677167-75677167 10:73917409-73917409
42 PLAU NM_002658.5(PLAU):c.*266T>CSNV Benign 300767 rs565576288 10:75676589-75676589 10:73916831-73916831
43 PLAU NM_002658.5(PLAU):c.*355C>TSNV Benign 300769 rs140559980 10:75676678-75676678 10:73916920-73916920
44 PLAU NM_002658.5(PLAU):c.*520G>TSNV Benign 300772 rs117134857 10:75676843-75676843 10:73917085-73917085
45 PLAU NM_002658.5(PLAU):c.*141C>TSNV Benign 300765 rs4065 10:75676464-75676464 10:73916706-73916706
46 PLAU NM_002658.5(PLAU):c.236G>A (p.Arg79Gln)SNV Benign 300745 rs201299522 10:75672724-75672724 10:73912966-73912966
47 PLAU NM_002658.5(PLAU):c.581C>T (p.Ala194Val)SNV Benign 300750 rs145865648 10:75673417-75673417 10:73913659-73913659
48 PLAU NM_002658.5(PLAU):c.602G>T (p.Arg201Leu)SNV Benign 300751 rs549461157 10:75673438-75673438 10:73913680-73913680
49 PLAU NM_002658.5(PLAU):c.706A>G (p.Ile236Val)SNV Benign 300754 rs150389556 10:75673763-75673763 10:73914005-73914005
50 PLAU NM_002658.5(PLAU):c.1053C>T (p.Tyr351=)SNV Benign 300759 rs558920700 10:75675091-75675091 10:73915333-73915333

Copy number variations for Quebec Platelet Disorder from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 45962 10 75670862 75677259 Mutation PLAU Quebec platelet disorder

Expression for Quebec Platelet Disorder

Search GEO for disease gene expression data for Quebec Platelet Disorder.

Pathways for Quebec Platelet Disorder

GO Terms for Quebec Platelet Disorder

Cellular components related to Quebec Platelet Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.8 SPARC SERPINE1 SELP PLAU F5 F10
2 extracellular region GO:0005576 9.61 VCL SPARC SERPINE1 PLAU MMRN1 F5
3 platelet alpha granule membrane GO:0031092 9.37 SPARC SELP
4 platelet alpha granule GO:0031091 9.32 SPARC F5
5 platelet dense granule membrane GO:0031088 9.16 SELP CD63
6 platelet alpha granule lumen GO:0031093 8.92 SPARC SERPINE1 MMRN1 F5

Biological processes related to Quebec Platelet Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.58 SPARC SERPINE1 ADAMTSL1
2 pigmentation GO:0043473 9.37 SPARC CD63
3 hemostasis GO:0007599 9.33 PLAU F5 F10
4 fibrinolysis GO:0042730 9.32 SERPINE1 PLAU
5 regulation of signaling receptor activity GO:0010469 9.26 SERPINE1 PLAU
6 blood coagulation GO:0007596 9.26 PLAU MMRN1 F5 F10
7 platelet degranulation GO:0002576 9.17 VCL SPARC SERPINE1 SELP MMRN1 F5

Sources for Quebec Platelet Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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