PDA
MCID: PTN014
MIFTS: 61

Patent Ductus Arteriosus 1 (PDA)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Patent Ductus Arteriosus 1

MalaCards integrated aliases for Patent Ductus Arteriosus 1:

Name: Patent Ductus Arteriosus 1 57 29
Patent Ductus Arteriosus 57 12 76 53 37 13 6 15 63
Ductus Arteriosus, Patent 12 44
Pda1 57 53
Pda 57 53
Patent Ductus Arteriosus, Susceptibility to 57
Patent Ductus Arteriosus - Persisting Type 73
Patent Ductus Arteriosus Familial 53
Patency of the Ductus Arteriosus 53
Ductus Arteriosus Patent 55
Patent Ductus Botalli 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
patent ductus arteriosus 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 607411
Disease Ontology 12 DOID:13832
ICD10 33 Q25.0
ICD9CM 35 747.0
MeSH 44 D004374
NCIt 50 C84492
SNOMED-CT 68 83330001
MedGen 42 C4282128
KEGG 37 H01630
SNOMED-CT via HPO 69 258211005

Summaries for Patent Ductus Arteriosus 1

OMIM : 57 Persistent patency of the ductus arteriosus, or patent ductus arteriosus (PDA), is the second most common congenital heart disease, affecting approximately 1 in 1,600 to 5,000 live births in the U.S. (Mitchell et al., 1971). In fetal life, the ductus arteriosus, a muscular artery, shunts blood from the pulmonary artery to the aorta, bypassing the lungs. Its abrupt closure at birth establishes the mature circulatory pattern and represents a dramatic example of vascular remodeling. Failure of this normal process results in persistent PDA, which left untreated can result in pulmonary hypertension and heart failure. Closure of the ductus is a complex process. Aspects of this process are regulated by oxygen tension and a decrease in levels of hormones such as prostaglandin E2. PDA occurring in preterm infants often closes spontaneously or in response to inhibitors of prostaglandin biosynthesis (Ramsay et al., 1987). Term PDA typically has not been regarded as a genetic disorder, because it most often occurs sporadically. Nonetheless, term PDA recurs among 5% of sibs of PDA cases (Polani and Campbell, 1960; Lamy et al., 1957), suggesting a genetic component to disease pathogenesis that has typically been presumed to be multifactorial. That single genes can influence this trait has been demonstrated by a mouse model of PDA resulting from disruption of the prostaglandin E2 receptor (Nguyen et al., 1997) and by rare syndromic forms of PDA such as Char syndrome (169100), an autosomal dominant disorder caused by mutations in the transcription factor TFAP2B (601601) (Mani et al., 2002). (607411)

MalaCards based summary : Patent Ductus Arteriosus 1, also known as patent ductus arteriosus, is related to char syndrome and total anomalous pulmonary venous return 1. An important gene associated with Patent Ductus Arteriosus 1 is PTPN11 (Protein Tyrosine Phosphatase, Non-Receptor Type 11), and among its related pathways/superpathways are Vascular smooth muscle contraction and Heart Development. Affiliated tissues include heart, lung and brain, and related phenotypes are patent ductus arteriosus and cardiovascular system

PubMed Health : 63 About patent ductus arteriosus: Patent ductus arteriosus (PDA) is a heart problem that affects some babies soon after birth. In PDA, abnormal blood flow occurs between two of the major arteries connected to the heart. These arteries are the aorta and the pulmonary (PULL-mun-ary) artery.Before birth, these arteries are connected by a blood vessel called the ductus arteriosus. This blood vessel is a vital part of fetal blood circulation.Within minutes or up to a few days after birth, the ductus arteriosus closes. This change is normal in newborns.In some babies, however, the ductus arteriosus remains open (patent). The opening allows oxygen-rich blood from the aorta to mix with oxygen-poor blood from the pulmonary artery. This can strain the heart and increase blood pressure in the lung arteries.

Wikipedia : 76 Patent ductus arteriosus (PDA) is a condition wherein the ductus arteriosus fails to close after... more...

Related Diseases for Patent Ductus Arteriosus 1

Diseases in the Patent Ductus Arteriosus 1 family:

Patent Ductus Arteriosus 2 Patent Ductus Arteriosus 3

Diseases related to Patent Ductus Arteriosus 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 206)
# Related Disease Score Top Affiliating Genes
1 char syndrome 31.6 ACTA2 NKX2-5 TFAP2A TFAP2B
2 total anomalous pulmonary venous return 1 30.8 CRELD1 GDF1 NKX2-6
3 aortic valve disease 1 30.6 ACTA2 CRELD1 NKX2-5 NKX2-6 NPPB
4 pulmonary valve stenosis 30.5 CRELD1 GATA4 NKX2-6 PTPN11
5 pulmonary valve insufficiency 30.4 NKX2-6 NPPB
6 heart valve disease 30.4 CRELD1 NKX2-6 NPPB
7 transposition of the great arteries 30.3 GDF1 NKX2-5
8 heart disease 30.1 CRELD1 FLNA GATA4 GATA6 GDF1 NKX2-5
9 atrioventricular septal defect 30.0 CRELD1 GATA4 GATA6 GDF1 NKX2-5 NKX2-6
10 tetralogy of fallot 29.9 CRELD1 GATA4 GATA6 GDF1 NKX2-5 NKX2-6
11 patent foramen ovale 29.8 ELMOD2 GATA4 GATA6 NKX2-5 NKX2-6 PTPN11
12 ventricular septal defect 29.4 GATA4 GATA6 GDF1 NKX2-5 NKX2-6 NPPB
13 atrial heart septal defect 28.8 CRELD1 ELMOD2 GATA4 GATA6 GDF1 NKX2-5
14 patent ductus arteriosus and bicuspid aortic valve with hand anomalies 12.5
15 intestinal pseudoobstruction with patent ductus arteriosus and natal teeth 12.4
16 congenital patent ductus arteriosus aneurysm 12.4
17 pulmonary artery coming from patent ductus arteriosus 12.4
18 multisystemic smooth muscle dysfunction syndrome 12.2
19 aortic aneurysm, familial thoracic 4 12.0
20 heterotaxy, visceral, 1, x-linked 11.8
21 fontaine progeroid syndrome 11.8
22 eisenmenger syndrome 11.8
23 femoral-facial syndrome 11.7
24 cantu syndrome 11.5
25 ramos arroyo clark syndrome 11.5
26 right pulmonary artery, anomalous origin of, familial 11.5
27 natal teeth, intestinal pseudoobstruction and patent ductus 11.5
28 premature closure of the arterial duct 11.5
29 hypertelorism, teebi type 11.4
30 mcdonough syndrome 11.4
31 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 11.4
32 periventricular nodular heterotopia 1 11.4
33 heart defects, congenital, and other congenital anomalies 11.4
34 axenfeld-rieger syndrome, type 3 11.4
35 nephronophthisis 16 11.4
36 congenital heart defects, multiple types, 4 11.4
37 nephronophthisis 20 11.4
38 congenital heart defects, multiple types, 5 11.4
39 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 11.4
40 chromosome 15, trisomy mosaicism 11.4
41 manouvrier syndrome 11.4
42 mcgillivray syndrome 11.4
43 pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome 11.3
44 patent ductus arteriosus 2 11.1
45 patent ductus arteriosus 3 11.1
46 endocarditis 10.7
47 coarctation of aorta 10.6
48 pulmonary hypertension, primary, 1 10.6
49 pulmonic stenosis 10.6
50 aortic arch interruption 10.5

Graphical network of the top 20 diseases related to Patent Ductus Arteriosus 1:



Diseases related to Patent Ductus Arteriosus 1

Symptoms & Phenotypes for Patent Ductus Arteriosus 1

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
patent ductus arteriosus


Clinical features from OMIM:

607411

Human phenotypes related to Patent Ductus Arteriosus 1:

32
# Description HPO Frequency HPO Source Accession
1 patent ductus arteriosus 32 HP:0001643

MGI Mouse Phenotypes related to Patent Ductus Arteriosus 1:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.37 ACTA2 CRELD1 FLNA GATA4 GATA6 GDF1
2 cellular MP:0005384 10.25 CRELD1 FLNA GATA4 GATA6 GDF1 NKX2-5
3 mortality/aging MP:0010768 10.13 CRELD1 FLNA GATA4 GATA6 GDF1 NKX2-5
4 embryo MP:0005380 10.11 CRELD1 GATA4 GATA6 GDF1 NKX2-5 NKX2-6
5 craniofacial MP:0005382 10.04 CRELD1 FLNA GDF1 NKX2-5 PTPN11 TFAP2A
6 integument MP:0010771 10.03 GATA4 NKX2-5 PRDM6 PTGER4 PTPN11 TFAP2A
7 digestive/alimentary MP:0005381 10.02 FLNA GATA4 GDF1 NKX2-5 PTPN11 TFAP2A
8 limbs/digits/tail MP:0005371 9.95 ELMOD2 GATA4 GATA6 PTPN11 TFAP2A TFAP2B
9 liver/biliary system MP:0005370 9.91 FLNA GATA4 GATA6 GDF1 PTGER4 PTPN11
10 muscle MP:0005369 9.86 ACTA2 GATA4 GATA6 NKX2-5 PTGER4 PTPN11
11 normal MP:0002873 9.81 FLNA GATA4 GATA6 GDF1 NKX2-5 NKX2-6
12 respiratory system MP:0005388 9.7 FLNA GATA4 GATA6 GDF1 NKX2-5 NKX2-6
13 skeleton MP:0005390 9.23 ELMOD2 FLNA GATA4 GDF1 PTGER4 PTPN11

Drugs & Therapeutics for Patent Ductus Arteriosus 1

PubMedHealth treatment related to Patent Ductus Arteriosus 1: 63

Patent ductus arteriosus (PDA) is treated with medicines, catheter-based procedures, and surgery. The goal of treatment is to close the PDA. Closure will help prevent complications and reverse the effects of increased blood volume.Small PDAs often close without treatment. For full-term infants, treatment is needed if the PDA is large or causing health problems. For premature infants, treatment is needed if the PDA is causing breathing problems or heart problems.Talk with your child's doctor about treatment options and how your family prefers to handle treatment decisions.

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety and Effectiveness Study With a New PDA Occluder for Closure of Patent Ductus Arteriosus Completed NCT01479218 Phase 1

Search NIH Clinical Center for Patent Ductus Arteriosus 1

Cochrane evidence based reviews: ductus arteriosus, patent

Genetic Tests for Patent Ductus Arteriosus 1

Genetic tests related to Patent Ductus Arteriosus 1:

# Genetic test Affiliating Genes
1 Patent Ductus Arteriosus 1 29

Anatomical Context for Patent Ductus Arteriosus 1

MalaCards organs/tissues related to Patent Ductus Arteriosus 1:

41
Heart, Lung, Brain, Kidney, Smooth Muscle, Bone, Testes

Publications for Patent Ductus Arteriosus 1

Articles related to Patent Ductus Arteriosus 1:

(show top 50) (show all 1261)
# Title Authors Year
1
New Patent Ductus Arteriosus Closure Devices and Techniques. ( 30449419 )
2019
2
Percutaneous Occlusion of Patent Ductus Arteriosus for an Elderly Patient With Refractory Congestive Heart Failure. ( 29367269 )
2018
3
Incidental finding of pulmonary arterial sling during patent ductus arteriosus surgery in a patient with Mowat-Wilson syndrome. ( 29954473 )
2018
4
Incidental adult polysplenia with situs inversus, interrupted inferior vena cava with azygos continuation, patent ductus arteriosus, and aortic branches variations: a case report. ( 29607204 )
2018
5
Endovascular treatment of an aortic aneurysm and patent ductus arteriosus. ( 30088488 )
2018
6
Percutaneous treatment of high-output right heart failure with pulmonary hypertension due to a large iliac arteriovenous fistula using a patent ductus arteriosus occluder. ( 29853698 )
2018
7
Hemodynamically significant patent ductus arteriosus and the development of bronchopulmonary dysplasia. ( 30343505 )
2018
8
Right-sided infective endocarditis in patients with uncorrected ventricular septal defect and patent ductus arteriosus: Two case reports. ( 30455914 )
2018
9
Stenting the complex patent ductus arteriosus in tetralogy of Fallot with pulmonary atresia: challenges and outcomes. ( 29199861 )
2018
10
Percutaneous closure of perimembranous ventricular septal defect using patent ductus arteriosus occluders. ( 30439981 )
2018
11
One-Stage Hybrid Procedure for Patent Ductus Arteriosus Combined with Other Cardiac Anomalies in Adults. ( 29893676 )
2018
12
Catheter-based closure of the patent ductus arteriosus in lower weight infants. ( 29909074 )
2018
13
Oral indomethacin versus oral ibuprofen for treatment of patent ductus arteriosus: a randomised controlled study in very low-birthweight infants. ( 29912679 )
2018
14
The dark side of ibuprofen in the treatment of patent ductus arteriosus: could paracetamol be the solution? ( 29938546 )
2018
15
The effect of patent ductus arteriosus on pre-ductal and post-ductal perfusion index in preterm neonates. ( 29943734 )
2018
16
Surgical Closure of Patent Ductus Arteriosus in Premature Neonates Weighing Less Than 1,000 grams: Contemporary Outcomes. ( 29945507 )
2018
17
Clinical study of stand-alone transthoracic echocardiography-guided percutaneous occlusion of patent ductus arteriosus. ( 29952360 )
2018
18
Patent ductus arteriosus in preterm infants born before 30 weeks' gestation: high rate of spontaneous closure after hospital discharge. ( 29954463 )
2018
19
Changing patterns of patent ductus arteriosus surgical ligation in the United States. ( 29954594 )
2018
20
Rescue procedure for left main bronchus obstruction after patent ductus arteriosus clipping: a case report. ( 29956009 )
2018
21
Patent ductus arteriosus, its treatments, and the risks of pulmonary morbidity. ( 29958703 )
2018
22
Photoplethysmographic assessment of pulse transit time correlates with echocardiographic measurement of stroke volume in preterm infants with patent ductus arteriosus. ( 29961764 )
2018
23
A promising, novel index in the diagnosis and follow-up of patent ductus arteriosus: Red cell distribution width-to-platelet ratio. ( 29978492 )
2018
24
Radiation exposure in transcatheter patent ductus arteriosus closure: time to tune? -CORRIGENDUM. ( 29983120 )
2018
25
Late oral acetaminophen versus immediate surgical ligation in preterm infants with persistent large patent ductus arteriosus. ( 30007780 )
2018
26
Patent ductus arteriosus ligation versus medical therapy: A glowing recommendation for matching. ( 30029789 )
2018
27
Pre-symptomatic targeted treatment of patent ductus arteriosus in preterm newborns: A systematic review and meta-analysis. ( 30040749 )
2018
28
Simulation-based suggestions to improve ibuprofen dosing for patent ductus arteriosus in preterm newborns. ( 30054639 )
2018
29
Conversion to thoracotomy of video-assisted thoracoscopic closure of patent ductus arteriosus. ( 30069190 )
2018
30
Application of NPE in the assessment of a patent ductus arteriosus. ( 30072803 )
2018
31
Patent ductus arteriosus closure and somatic regional oxyhemoglobin saturation. ( 30074123 )
2018
32
New Nano-Film Single-Rivet Patent Ductus Arteriosus Occluders: A Prospective, Randomized and Double-blind Study. ( 30074156 )
2018
33
Patent ductus arteriosus coexisting with a left brachiocephalic artery originating from the descending aorta: A case report. ( 30075586 )
2018
34
Early treatment versus expectative management of patent ductus arteriosus in preterm infants: a multicentre, randomised, non-inferiority trial in Europe (BeNeDuctus trial). ( 30077184 )
2018
35
Contemporary approach to the patent ductus arteriosus and future considerations. ( 30093170 )
2018
36
Relationship of Patent Ductus Arteriosus Size to Echocardiographic Markers of Shunt Volume. ( 30115452 )
2018
37
Pharmacotherapy for closure of large patent ductus arteriosus in preterm neonates: Fail once, not twice. ( 30119903 )
2018
38
Ahead of his time: Gross' first successful ligation of a patent ductus arteriosus. ( 30158137 )
2018
39
Incidence, Risk Factors, and Comorbidities of Vocal Cord Paralysis After Surgical Closure of a Patent Ductus Arteriosus: A Meta-analysis. ( 30167748 )
2018
40
Transcatheter closure through single venous approach for young children with patent ductus arteriosus: A retrospective study of 686 cases. ( 30170394 )
2018
41
High-sensitivity troponin T in preterm infants with a hemodynamically significant patent ductus arteriosus. ( 30171214 )
2018
42
Patent Ductus Arteriosus with Infective Vegetations in Grandmultipara. ( 30173682 )
2018
43
Can lactate levels be used as a marker of patent ductus arteriosus in preterm babies? ( 30175415 )
2018
44
Birth weight, Apgar scores and gentamicin were associated with acute kidney injuries in VLBW neonates requiring treatment for patent ductus arteriosus. ( 30178614 )
2018
45
Use of Amplatzer vascular plugs and Amplatzer duct occluder II additional sizes for occlusion of patent ductus arteriosus: A multi-institutional study. ( 30196542 )
2018
46
The changing face of percutaneous closure of the patent ductus arteriosus: advances over the last few years. ( 30204216 )
2018
47
Transcatheter closure of the patent ductus arteriosus at a public sector hospital in Soweto, South Africa: a review of patient outcomes over 15 years. ( 30204220 )
2018
48
Effects of prophylactic oral ibuprofen on the closure rate of patent ductus arteriosus in premature infants. ( 30212951 )
2018
49
A hybrid approach for patent ductus arteriosus closure using the Amplatzer Duct Occluder. ( 30221386 )
2018
50
Covariation of Neonatal Intensive Care Unit-Level Patent Ductus Arteriosus Management and In-Neonatal Intensive Care Unit Outcomes Following Preterm Birth. ( 30243544 )
2018

Variations for Patent Ductus Arteriosus 1

ClinVar genetic disease variations for Patent Ductus Arteriosus 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PTPN11 NM_002834.4(PTPN11): c.184T> G (p.Tyr62Asp) single nucleotide variant Pathogenic rs121918460 GRCh37 Chromosome 12, 112888168: 112888168
2 PTPN11 NM_002834.4(PTPN11): c.184T> G (p.Tyr62Asp) single nucleotide variant Pathogenic rs121918460 GRCh38 Chromosome 12, 112450364: 112450364

Expression for Patent Ductus Arteriosus 1

Search GEO for disease gene expression data for Patent Ductus Arteriosus 1.

Pathways for Patent Ductus Arteriosus 1

Pathways related to Patent Ductus Arteriosus 1 according to KEGG:

37
# Name Kegg Source Accession
1 Vascular smooth muscle contraction hsa04270

Pathways related to Patent Ductus Arteriosus 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.59 GATA4 GATA6 NKX2-5 PTPN11
2 10.47 GATA4 NKX2-5 NPPB
3 9.93 GATA4 NKX2-5

GO Terms for Patent Ductus Arteriosus 1

Biological processes related to Patent Ductus Arteriosus 1 according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 9.95 GATA6 NKX2-5 PRDM6 TFAP2A TFAP2B
2 positive regulation of transcription, DNA-templated GO:0045893 9.88 ACTA2 GATA4 GATA6 NKX2-5 TFAP2A TFAP2B
3 transcription by RNA polymerase II GO:0006366 9.85 GATA4 GATA6 NKX2-5 NKX2-6 TFAP2A TFAP2B
4 negative regulation of apoptotic process GO:0043066 9.8 FLNA GATA6 NKX2-5 NKX2-6 TFAP2A TFAP2B
5 cell development GO:0048468 9.63 GATA4 GATA6 GDF1
6 anatomical structure formation involved in morphogenesis GO:0048646 9.61 GATA4 GATA6
7 tissue development GO:0009888 9.6 GATA4 GATA6
8 retina layer formation GO:0010842 9.59 TFAP2A TFAP2B
9 embryonic heart tube development GO:0035050 9.58 NKX2-5 NKX2-6
10 cardiac muscle tissue development GO:0048738 9.57 GATA6 NKX2-5
11 pharyngeal system development GO:0060037 9.56 NKX2-5 NKX2-6
12 heart development GO:0007507 9.55 GATA4 GATA6 NKX2-5 NKX2-6 PTPN11
13 positive regulation of urine volume GO:0035810 9.54 NPPB TFAP2B
14 atrial septum morphogenesis GO:0060413 9.52 GATA4 NKX2-5
15 endocardial cushion development GO:0003197 9.51 CRELD1 GATA4
16 cardiac ventricle morphogenesis GO:0003208 9.49 GATA4 NKX2-5
17 ventricular cardiac muscle cell development GO:0055015 9.48 NKX2-5 NKX2-6
18 intestinal epithelial cell differentiation GO:0060575 9.43 GATA4 GATA6
19 atrial cardiac muscle cell development GO:0055014 9.26 NKX2-5 NKX2-6
20 cardiac muscle cell differentiation GO:0055007 9.13 GATA4 GATA6 NKX2-5
21 positive regulation of cardioblast differentiation GO:0051891 8.8 GATA4 GATA6 NKX2-5
22 regulation of transcription, DNA-templated GO:0006355 10.13 GATA4 GATA6 NKX2-5 NKX2-6 TFAP2A TFAP2B
23 positive regulation of transcription by RNA polymerase II GO:0045944 10.09 GATA4 GATA6 NKX2-5 NKX2-6 TFAP2A TFAP2B

Molecular functions related to Patent Ductus Arteriosus 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.97 GATA4 GATA6 NKX2-5 NKX2-6 PRDM6 TFAP2A
2 DNA-binding transcription factor activity GO:0003700 9.87 GATA4 GATA6 NKX2-5 NKX2-6 TFAP2A TFAP2B
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.8 GATA4 GATA6 NKX2-5 TFAP2A TFAP2B
4 transcription factor binding GO:0008134 9.76 FLNA GATA4 GATA6 NKX2-5
5 transcription regulatory region DNA binding GO:0044212 9.73 GATA4 GATA6 NKX2-5 TFAP2A
6 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.65 GATA4 GATA6 NKX2-5 TFAP2A TFAP2B
7 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.55 GATA4 NKX2-6 PRDM6 TFAP2A TFAP2B
8 sequence-specific DNA binding GO:0043565 9.17 GATA4 GATA6 NKX2-5 NKX2-6 PRDM6 TFAP2A
9 enhancer sequence-specific DNA binding GO:0001158 9.13 GATA4 GATA6 TFAP2B

Sources for Patent Ductus Arteriosus 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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