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MCID: PRT011
MIFTS: 45

Protein C Deficiency

Categories: Blood diseases, Genetic diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Protein C Deficiency

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MalaCards integrated aliases for Protein C Deficiency:

Name: Protein C Deficiency 12 75 53 25 55 44 15 17 72
Autosomal Recessive Thrombophilia Due to Congenital Protein C Deficiency 53
Severe Hereditary Thrombophilia Due to Congenital Protein C Deficiency 53
Congenital Thrombotic Disease, Due to Protein C Deficiency 72
Autosomal Recessive Thrombophilia Due to Pc Deficiency 53
Hereditary Thrombophilia Due to Protein C Deficiency 25
Proc Deficiency 25

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Blood diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:3756
MeSH 44 D020151
NCIt 50 C99025
SNOMED-CT 68 76407009
ICD10 33 D68.59
UMLS 72 C0398625 C2930896
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Summaries for Protein C Deficiency

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Genetics Home Reference : 25 Protein C deficiency is a disorder that increases the risk of developing abnormal blood clots; the condition can be mild or severe. Individuals with mild protein C deficiency are at risk of a type of blood clot known as a deep vein thrombosis (DVT). These clots occur in the deep veins of the arms or legs, away from the surface of the skin. A DVT can travel through the bloodstream and lodge in the lungs, causing a life-threatening blockage of blood flow known as a pulmonary embolism (PE). While most people with mild protein C deficiency never develop abnormal blood clots, certain factors can add to the risk of their development. These factors include increased age, surgery, inactivity, or pregnancy. Having another inherited disorder of blood clotting in addition to protein C deficiency can also influence the risk of abnormal blood clotting. In severe cases of protein C deficiency, infants develop a life-threatening blood clotting disorder called purpura fulminans soon after birth. Purpura fulminans is characterized by the formation of blood clots in the small blood vessels throughout the body. These blood clots block normal blood flow and can lead to localized death of body tissue (necrosis). Widespread blood clotting uses up all available blood clotting proteins. As a result, abnormal bleeding occurs in various parts of the body, which can cause large, purple patches on the skin. Individuals who survive the newborn period may experience recurrent episodes of purpura fulminans.

MalaCards based summary : Protein C Deficiency, also known as autosomal recessive thrombophilia due to congenital protein c deficiency, is related to budd-chiari syndrome and purpura fulminans. An important gene associated with Protein C Deficiency is PROC (Protein C, Inactivator Of Coagulation Factors Va And VIIIa), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Protein C and Fibrinolytic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and liver, and related phenotypes are cardiovascular system and homeostasis/metabolism

NIH Rare Diseases : 53 Protein C deficiency is a disorder that increases a person's risk to develop abnormal blood clots due to a deficiency of the Protein C, a protein in the body that prevents blood clotting. It may be inherited or acquired. Inherited deficiency of protein C can lead to familial thrombophilia (increased tendency toward thrombosis). It is caused by mutations in the PROC gene, and in most cases is transmitted in an autosomal dominant way; a few people inherit an abnormal allele from both parents and may have a more severe disease (please see autosomal recessive protein C deficiency) because they have very low levels of active protein C. Acquired protein C deficiency may be caused by large blood clots, liver disease, disseminated intravascular coagulation (DIC), infection (sepsis), vitamin K deficiency, use of warfarin or certain types of chemotherapy. While most people with protein C deficiency do not have problems, some are at risk for a type of clot called deep vein thrombosis (DVT), which can travel through the bloodstream and become stuck in the lung, causing pulmonary embolism. Also, abnormal bleeding can occur in various parts of the body causing purple patches on the skin. Treatment depend on the symptoms severity. Most people do not need any treatment. However, in situations of clot risk such as pregnancy, surgery or trauma, prevention treatment may be indicated.

Wikipedia : 75 Protein C deficiency is a rare genetic trait that predisposes to thrombotic disease. It was first... more...

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Related Diseases for Protein C Deficiency

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Diseases related to Protein C Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 305)
# Related Disease Score Top Affiliating Genes
1 budd-chiari syndrome 31.2 SERPINC1 MTHFR F5 F2
2 purpura fulminans 31.1 SERPINC1 PROC F2
3 endocarditis 30.4 SERPINC1 F2
4 purpura 30.4 THBD SERPINC1 PROC F2
5 acute respiratory distress syndrome 30.1 SFTPC F5
6 cerebral sinovenous thrombosis 30.1 F5 F2
7 esophageal varix 30.1 SERPINC1 F2
8 hypersplenism 30.0 SERPINC1 F2
9 afibrinogenemia 30.0 F5 F2
10 sagittal sinus thrombosis 29.9 SERPINC1 F5 F2
11 acute liver failure 29.9 F5 F2
12 hemophilia a 29.8 F9 F5
13 afibrinogenemia, congenital 29.8 SERPINC1 F2
14 neonatal stroke 29.8 PROC MTHFR
15 hemophilia 29.8 F9 F2
16 legg-calve-perthes disease 29.7 THBD SERPINC1 F5
17 thrombocytosis 29.6 SERPINC1 F2
18 cerebrovascular disease 29.6 MTHFR F5 F2
19 intracranial thrombosis 29.6 SERPINC1 MTHFR F5
20 ischemic colitis 29.5 SERPINC1 F5 F2
21 amaurosis fugax 29.5 MTHFR F5
22 peripheral vascular disease 29.5 THBD SERPINC1 F2
23 thrombophlebitis 29.5 SERPINC1 MTHFR F5 F2
24 hemophilia b 29.3 SERPINC1 F9 F2
25 portal vein thrombosis 29.3 SERPINC1 MTHFR F5 F2
26 buerger disease 29.3 MTHFR F2
27 disseminated intravascular coagulation 29.2 THBD SERPINC1 F9 F5 F2
28 lateral sinus thrombosis 29.2 MTHFR F9
29 protein s deficiency 29.1 SERPINC1 MTHFR F5 F2
30 antithrombin iii deficiency 29.1 SERPINC1 MTHFR F5 F2
31 osteonecrosis 29.0 SERPINC1 MTHFR F2
32 varicose veins 29.0 SERPINC1 MTHFR F5 F2
33 meningococcemia 29.0 THBD SERPINC1 PROC F5
34 thrombophilia due to thrombin defect 28.9 THBD SERPINC1 PROC MTHFR F5 F2
35 livedoid vasculitis 28.9 SERPINC1 MTHFR F2
36 hepatic infarction 28.9 SERPINC1 MTHFR F2
37 dysfibrinogenemia 28.8 THBD SERPINC1 F5 F2
38 pulmonary embolism 28.7 SERPINC1 MTHFR F9 F5 F2
39 central retinal vein occlusion 28.6 SERPINC1 MTHFR F5 F2
40 homocysteinemia 28.6 SERPINC1 MTHFR F5 F2
41 retinal vein occlusion 28.4 SERPINC1 MTHFR F5 F2
42 intracranial hypertension 28.4 SERPINC1 MTHFR F5 F2
43 stroke, ischemic 28.3 THBD SERPINC1 MTHFR F5 F2
44 antiphospholipid syndrome 28.3 THBD SERPINC1 MTHFR F5 F2
45 myocardial infarction 28.2 THBD SERPINC1 MTHFR F5 F2
46 eclampsia 28.1 THBD SERPINC1 MTHFR F2
47 hemorrhagic disease 28.0 THBD SERPINC1 F9 F5 F2
48 pre-eclampsia 27.9 THBD SERPINC1 MTHFR F5 F2
49 vascular disease 27.9 THBD SERPINC1 MTHFR F5 F2
50 marantic endocarditis 27.7 THBD SERPINC1 PROC MTHFR F2

Graphical network of the top 20 diseases related to Protein C Deficiency:



Diseases related to Protein C Deficiency
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Symptoms & Phenotypes for Protein C Deficiency

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MGI Mouse Phenotypes related to Protein C Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.87 F2 F5 F9 PROC SERPINC1 SFTPC
2 homeostasis/metabolism MP:0005376 9.7 F2 F5 F9 MTHFR PROC SERPINC1
3 embryo MP:0005380 9.65 F2 F5 F9 SERPINC1 THBD
4 liver/biliary system MP:0005370 9.43 F5 F9 MTHFR PROC SERPINC1 THBD
5 mortality/aging MP:0010768 9.23 F2 F5 F9 MTHFR PROC SERPINC1
Sources

Drugs & Therapeutics for Protein C Deficiency

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Drugs for Protein C Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Protein C Approved Phase 3
2 Fibrinolytic Agents Phase 3
3 Drotrecogin alfa activated Phase 2
4 Anti-Infective Agents Phase 2
5
Enoxaparin Approved 9005-49-6 772
6
Testosterone Approved, Experimental, Investigational 481-30-1, 58-22-0 6013 10204
7
Testosterone enanthate Approved 315-37-7 9416
8
Methyltestosterone Approved 58-18-4 6010
9
Testosterone undecanoate Approved, Investigational 5949-44-0
10
Vitamin C Approved, Nutraceutical 50-81-7 54670067 5785
11 Micronutrients
12 Estrogens
13 Trace Elements
14 Hormones
15 Androgens
16 Antioxidants
17 Estrogens, Conjugated (USP)
18 Anabolic Agents
19 Vitamins
20 Protective Agents
21 Antineoplastic Agents, Hormonal
22 Hormone Antagonists
23 Nutrients
24 Testosterone 17 beta-cypionate
25 Hormones, Hormone Substitutes, and Hormone Antagonists

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Double-blind, Placebo-controlled, Multicenter, Phase 3 Study of Drotrecogin Alfa (Activated) Administered as a Continuous 96-hr Infusion to Adult Patients With Septic Shock Completed NCT00604214 Phase 3 Drotrecogin alfa (activated);Placebo
2 Administration of Protein C Concentrates in Adult Critically Ill Septic Patients Terminated NCT01705808 Phase 3 Protein C concentrate
3 Prospective, Randomized Phase II Clinical Trial of Activated Protein C (Xigris) Versus Placebo for the Treatment of Acute Lung Injury Terminated NCT00112164 Phase 2 Xigris
4 A Retrospective Study to Capture Dosing and Treatment Outcome Data in Subjects With Severe Congenital Protein C Deficiency Who Were Treated With Protein C Concentrate Under an Emergency Use IND Completed NCT00161720 Protein C Concentrate (Human) Vapor Heated
5 Ceprotin Treatment Registry Completed NCT01127529
6 Thromboprophylaxis in Pregnant Women in Hospital: A Prospective Clinical Trial Recruiting NCT02600260 Enoxaparin
7 Sepsis-Associated Purpura Fulminans International Registry - Europe Recruiting NCT02238795
8 Serum Androgen Levels as a Marker for the Severity of Preeclampsia Active, not recruiting NCT03744988
9 Validation of a Novel Dabigatran Based Peri-Operative Bridging Anticoagulation Protocol for Patients on Chronic Warfarin Therapy Withdrawn NCT01810237 Dabigatran.

Search NIH Clinical Center for Protein C Deficiency

Cochrane evidence based reviews: protein c deficiency

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Genetic Tests for Protein C Deficiency

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Anatomical Context for Protein C Deficiency

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MalaCards organs/tissues related to Protein C Deficiency:

41
Skin, Lung, Liver, Testes, Heart, Endothelial, Bone Marrow
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Publications for Protein C Deficiency

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Articles related to Protein C Deficiency:

(show top 50) (show all 1285)
# Title Authors PMID Year
1
Incidence of thrombophilia and venous thrombosis in transsexuals under cross-sex hormone therapy. 9 38
19200981 2010
2
[Interstitial lung disease in the course of the surfactant protein C deficiency coexisting with the primary humoral immunodeficiency - case study]. 9 38
20461694 2010
3
Thrombophilia investigation in Malaysian women with recurrent pregnancy loss. 9 38
20144172 2009
4
Severe purpura fulminans due to coexistence of homozygous protein C deficiency and homozygous methylenetetrahydrofolate reductase mutation. 9 38
19954370 2009
5
[Cerebral venous thrombosis: when etiology makes the difference]. 9 38
19921552 2009
6
Fulminant sepsis/meningitis due to Haemophilus influenzae in a protein C-deficient heterozygote treated with activated protein C therapy. 9 38
18751723 2009
7
Definite diagnosis in Japanese patients with protein C deficiency by identification of causative PROC mutations. 9 38
19373522 2009
8
Thrombophilia: 2009 update. 9 38
19289024 2009
9
Activated protein C concentrate treatment for skin necrosis under warfarin treatment in severe genetic protein C deficiency combined with prothrombin mutation and factor V Leiden. 9 38
19190829 2009
10
Deficiency of the natural anticoagulant proteins in women with pregnancy related venous thromboembolism. 9 38
19514602 2009
11
High long-term absolute risk of recurrent venous thromboembolism in patients with hereditary deficiencies of protein S, protein C or antithrombin. 9 38
19132194 2009
12
Etiology of hypercoagulable state in women with recurrent fetal loss without other causes of miscarriage from Southern Italy: new clinical target for antithrombotic therapy. 9 38
19707467 2008
13
Protein C deficiency. 9 38
19141162 2008
14
Factor V Leiden, prothrombin G20210A, and protein C mutation frequency in Turkish venous thrombosis patients. 9 38
18160601 2008
15
Hereditary deficiency of protein C or protein S confers increased risk of arterial thromboembolic events at a young age: results from a large family cohort study. 9 38
18824642 2008
16
A model for the formation, growth, and lysis of clots in quiescent plasma. A comparison between the effects of antithrombin III deficiency and protein C deficiency. 9 38
18539301 2008
17
Arteriovenous thrombosis in chronic renal failure patients receiving renal replacement therapy. 9 38
18760065 2008
18
Etiological profile of stroke and its relation with prothrombotic states. 9 38
18759085 2008
19
Thrombophilia differences in cerebral venous sinus and lower extremity deep venous thrombosis. 9 38
18285537 2008
20
Hemostasis activation in thrombophilic subjects with or without a history of venous thrombosis. 9 38
17895509 2008
21
Severe protein C deficiency from compound heterozygous mutations in the PROC gene in two Korean adult patients. 9 38
18573519 2008
22
Risk factors of venous thromboembolism in thai patients. 9 38
18192106 2007
23
Prothrombotic risk factors in children with hemiplegic cerebral palsy. 9 38
17875083 2007
24
Arterial thrombosis and the role of thrombophilia. 9 38
17768691 2007
25
The prevalence of thrombophilia and venous thromboembolism in total knee arthroplasty. 9 38
17710975 2007
26
Hirudin treatment for multiple thromboses in a preterm infant with inherited thrombophilia. 9 38
17473583 2007
27
Myocardial infarction and venous thrombosis in a 42-year old woman with heterozygous methylenetetrahydrofolate reductase (MTHRF) gene mutation, hyperhomocysteinemia, and protein C deficiency. 9 38
17360059 2007
28
Livedoid vasculopathy and hypercoagulability in a patient with primary Sjögren's syndrome. 9 38
17442092 2007
29
Livedoid vasculopathy associated with plasminogen activator inhibitor-1 promoter homozygosity (4G/4G) treated successfully with tissue plasminogen activator. 9 38
17116837 2006
30
The relationship between pregnancy induced hypertension and congenital thrombophilia. 9 38
16883445 2006
31
Stroke in childhood: experience in Istanbul, Turkey. 9 38
16636011 2006
32
The prevalence of thrombophilia in patients with symptomatic peripheral vascular disease. 9 38
16607693 2006
33
Cardiopulmonary bypass for a coronary artery bypass graft patient with heterozygous protein C deficiency and protein S deficiency. 9 38
16615690 2006
34
Prothrombotic abnormalities in childhood ischaemic stroke. 9 38
16039697 2006
35
The John Charnley Award: heritable thrombophilia and development of thromboembolic disease after total hip arthroplasty. 9 38
16330983 2005
36
Thrombophilia testing in patients with venous thrombosis. 9 38
16055356 2005
37
Protein C Sapporo (protein C Glu 25 --> Lys): a heterozygous missense mutation in the Gla domain provides new insight into the interaction between protein C and endothelial protein C receptor. 9 38
16363234 2005
38
[Venous thromboembolic disease: which coagulation screening, for whom, when?]. 9 38
16240880 2005
39
The relationship of the factor V Leiden mutation and pregnancy outcomes for mother and fetus. 9 38
16135581 2005
40
Ischemic stroke subtypes and thrombophilia in young and elderly Brazilian stroke patients admitted to a rehabilitation hospital. 9 38
16109904 2005
41
Protein S deficiency is common in a healthy Thai population. 9 38
16623037 2005
42
Thrombophilia in children with cystic fibrosis. 9 38
15678507 2005
43
Homozygous type I Protein C deficiency in neonatal purpura fulminans with a novel frame-shift deletion of 10 base pairs in exon 8 of PROC gene. 9 38
15748260 2005
44
Ethnic differences in cerebral venous thrombosis. 9 38
15644626 2005
45
Hydroxychloroquine and surfactant protein C deficiency. 9 38
15647591 2005
46
Recurrent miscarriage syndrome and infertility due to blood coagulation protein/platelet defects: a review and update. 9 38
15678268 2005
47
[Primary thrombophilia. Report of 93 cases and 12 asymptomatic relatives]. 9 38
15743157 2004
48
Prevalence of factor V Leiden mutation and other hereditary thrombophilic factors in Egyptian children with portal vein thrombosis: results of a single-center case-control study. 9 38
15309526 2004
49
Frequency of hereditary thrombophilia: an AKUH experience. 9 38
15461212 2004
50
R147W mutation of PROC gene is common in venous thrombotic patients in Taiwanese Chinese. 9 38
15114590 2004
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Variations for Protein C Deficiency

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Expression for Protein C Deficiency

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Search GEO for disease gene expression data for Protein C Deficiency.
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Pathways for Protein C Deficiency

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Pathways related to Protein C Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Response to elevated platelet cytosolic Ca2+ 66
Show member pathways
 12.88 THBD SERPINC1 PROC HRG F9 F5
2
Collagen chain trimerization 66
Show member pathways
 12.36 THBD SERPINC1 PROC F9 F5 F2
3
Cell surface interactions at the vascular wall 66
Show member pathways
 11.83 THBD PROC F2
4
Formation of Fibrin Clot (Clotting Cascade) 66
Show member pathways
 11.63 THBD SERPINC1 PROC F9 F5 F2
5
Gamma carboxylation, hypusine formation and arylsulfatase activation 66
Show member pathways
 11.58 PROC F9 F2
6
Complement and coagulation cascades 37 1
11.24 THBD SERPINC1 PROC F9 F5 F2
7
Warfarin Pathway, Pharmacodynamics 61
10.67 PROC F9 F2
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GO Terms for Protein C Deficiency

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Cellular components related to Protein C Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.7 SFTPC SERPINC1 PROC HRG F9 F5
2 blood microparticle GO:0072562 9.5 SERPINC1 HRG F2
3 extracellular space GO:0005615 9.5 THBD SFTPC SERPINC1 PROC F9 F5
4 Golgi lumen GO:0005796 9.43 PROC F9 F2
5 endoplasmic reticulum lumen GO:0005788 9.02 SERPINC1 PROC F9 F5 F2

Biological processes related to Protein C Deficiency according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.69 SERPINC1 PROC F5
2 ER to Golgi vesicle-mediated transport GO:0006888 9.67 PROC F9 F5 F2
3 cellular protein metabolic process GO:0044267 9.65 SFTPC SERPINC1 PROC F5 F2
4 regulation of blood coagulation GO:0030193 9.5 SERPINC1 HRG F2
5 blood coagulation GO:0007596 9.5 THBD SERPINC1 PROC HRG F9 F5
6 blood circulation GO:0008015 9.49 MTHFR F5
7 fibrinolysis GO:0042730 9.48 HRG F2
8 blood coagulation, intrinsic pathway GO:0007597 9.46 F9 F2
9 negative regulation of blood coagulation GO:0030195 9.43 THBD PROC
10 negative regulation of platelet activation GO:0010544 9.4 THBD F2
11 negative regulation of fibrinolysis GO:0051918 9.33 THBD HRG F2
12 hemostasis GO:0007599 9.17 THBD SERPINC1 PROC HRG F9 F5

Molecular functions related to Protein C Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.46 THBD PROC F9 F2
2 serine-type endopeptidase activity GO:0004252 9.43 PROC F9 F2
3 heparin binding GO:0008201 9.13 SERPINC1 HRG F2
4 serine-type peptidase activity GO:0008236 8.8 PROC F9 F2
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Sources for Protein C Deficiency

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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