MCID: ATY022
MIFTS: 34

Atypical Coarctation of Aorta

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Atypical Coarctation of Aorta

MalaCards integrated aliases for Atypical Coarctation of Aorta:

Name: Atypical Coarctation of Aorta 58
Middle Aortic Syndrome 58 71
Midaortic Syndrome 58 6
Coarctation of the Abdominal Aorta 58
Mid-Aortic Dysplastic Syndrome 58
Mid-Aortic Syndrome 58
Takayasu Arteritis 71

Characteristics:

Orphanet epidemiological data:

58
atypical coarctation of aorta
Inheritance: Not applicable; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q25.1
UMLS via Orphanet 72 C3805239
Orphanet 58 ORPHA1456
UMLS 71 C0039263 C3496579

Summaries for Atypical Coarctation of Aorta

MalaCards based summary : Atypical Coarctation of Aorta, also known as middle aortic syndrome, is related to neurofibromatosis, type iv, of riccardi and renal hypertension. An important gene associated with Atypical Coarctation of Aorta is JAG1 (Jagged Canonical Notch Ligand 1), and among its related pathways/superpathways is Glioma. The drugs Methotrexate and leucovorin have been mentioned in the context of this disorder. Affiliated tissues include t cells and heart, and related phenotype is hearing/vestibular/ear.

Related Diseases for Atypical Coarctation of Aorta

Diseases related to Atypical Coarctation of Aorta via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 79)
# Related Disease Score Top Affiliating Genes
1 neurofibromatosis, type iv, of riccardi 10.4
2 renal hypertension 10.3
3 renovascular hypertension 10.3
4 coarctation of aorta 10.3
5 takayasu arteritis 10.3
6 intermittent claudication 10.3
7 aortitis 10.3
8 aneurysm 10.3
9 malignant hypertension 10.2
10 congestive heart failure 10.2
11 acute kidney failure 10.1
12 renal artery disease 10.1
13 fibromuscular dysplasia 10.0
14 pheochromocytoma 10.0
15 williams-beuren syndrome 10.0
16 pulmonic stenosis 10.0
17 hurler syndrome 10.0
18 mucopolysaccharidosis-plus syndrome 10.0
19 adrenal gland pheochromocytoma 10.0
20 splenic artery aneurysm 10.0
21 gastroenteritis 10.0
22 uremia 10.0
23 renal dysplasia 10.0
24 celiac disease 1 10.0
25 moyamoya disease 1 10.0
26 dermatitis herpetiformis, familial 10.0
27 stroke, ischemic 10.0
28 fetal alcohol syndrome 10.0
29 alcohol-related birth defect 10.0
30 intracranial aneurysm 10.0
31 malignant renovascular hypertension 10.0
32 iga glomerulonephritis 10.0
33 mediastinitis 10.0
34 polyhydramnios 10.0
35 dermatitis herpetiformis 10.0
36 vasculitis 10.0
37 cerebral aneurysms 10.0
38 rare vascular disease 10.0
39 dilated cardiomyopathy 10.0
40 ventricular septal defect 10.0
41 heart septal defect 10.0
42 aortic disease 9.9
43 neuroblastoma 9.9
44 atrial standstill 1 9.9
45 alagille syndrome 1 9.9
46 hydrops fetalis, nonimmune 9.9
47 limb ischemia 9.9
48 scoliosis 9.9
49 vascular disease 9.9
50 cholecystitis 9.9

Graphical network of the top 20 diseases related to Atypical Coarctation of Aorta:



Diseases related to Atypical Coarctation of Aorta

Symptoms & Phenotypes for Atypical Coarctation of Aorta

MGI Mouse Phenotypes related to Atypical Coarctation of Aorta:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 JAG1 NF1

Drugs & Therapeutics for Atypical Coarctation of Aorta

Drugs for Atypical Coarctation of Aorta (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 67)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methotrexate Approved Phase 3 59-05-2, 1959-05-2 126941
2
leucovorin Approved Phase 3 58-05-9 6006 143
3
Mycophenolic acid Approved Phase 3 24280-93-1 446541
4
Azathioprine Approved Phase 3 446-86-6 2265
5
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
6
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
7
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
8 Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
9
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
10
Upadacitinib Approved, Investigational Phase 3 1310726-60-3
11
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 6055-19-2, 50-18-0 2907
12
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
13
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
14
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
15 Dermatologic Agents Phase 3
16 Anti-Infective Agents Phase 3
17 Antimetabolites Phase 3
18 Folic Acid Antagonists Phase 3
19 Antibiotics, Antitubercular Phase 3
20 Vitamin B Complex Phase 3
21 Vitamin B9 Phase 3
22 Folate Phase 3
23 Antitubercular Agents Phase 3
24 Anti-Bacterial Agents Phase 3
25 Gastrointestinal Agents Phase 3
26 Anti-Inflammatory Agents Phase 3
27 Antiemetics Phase 3
28 glucocorticoids Phase 3
29 Protective Agents Phase 3
30 Neuroprotective Agents Phase 3
31 Methylprednisolone Acetate Phase 3
32 Antineoplastic Agents, Hormonal Phase 3
33 Hormone Antagonists Phase 3
34 Autonomic Agents Phase 3
35 Hormones Phase 3
36 Antirheumatic Agents Phase 2, Phase 3
37 Immunologic Factors Phase 2, Phase 3
38 Alkylating Agents Phase 2, Phase 3
39 Immunosuppressive Agents Phase 2, Phase 3
40
Infliximab Approved Phase 2 170277-31-3
41
Abatacept Approved Phase 2 332348-12-6 10237
42
Ethanol Approved Phase 2 64-17-5 702
43
Naltrexone Approved, Investigational, Vet_approved Phase 2 16590-41-3 5360515
44
Aldesleukin Approved Phase 2 85898-30-2, 110942-02-4
45 Narcotics Phase 2
46 Narcotic Antagonists Phase 2
47 Analgesics, Non-Narcotic Phase 2
48 Analgesics Phase 2
49 Interleukin-2 Phase 2
50
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189

Interventional clinical trials:

(show all 47)
# Name Status NCT ID Phase Drugs
1 Efficacy and Tolerance of First-line Treatment With Tocilizumab in Active Takayasu Arteritis French Prospective Multicenter Study Unknown status NCT02101333 Phase 3 Tocilizumab
2 Comparison of the Efficacy of Mycophenolate Mofetil Combined With Methotrexate and Cyclophosphamide for the Treatment of Takayasu's Arteritis Unknown status NCT03096275 Phase 3 MMF;CYC;Glucocorticoids;MTX;AZA
3 A Phase 3, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Upadacitinib in Subjects With Takayasu Arteritis (SELECT-Takayasu) Not yet recruiting NCT04161898 Phase 3 Upadacitinib;Placebo for Upadacitinib;Prednisolone
4 Does Inactive Takayasu Arteritis(NIH Criteria) Need Anti-inflammatory Treatment? Not yet recruiting NCT03550781 Phase 2, Phase 3 Prednisone, cyclophosphamide
5 Anti-tumor Necrosis Factor Therapy Effect on Takayasu Arteritis Unknown status NCT02457585 Phase 2 remicade (anti tumor necrosis factor inhibitor)
6 Concurrent Pilot Studies in Giant Cell Arteritis and Takayasu's Arteritis to Examine the Safety, Efficacy, and Immunologic Effects of Abatacept (CTLA4-Ig) in Large Vessel Vasculitis Completed NCT00556439 Phase 2 Abatacept;Placebo
7 Low Dose Naltrexone to Improve Physical Health in Patients With Vasculitis Recruiting NCT03482479 Phase 2 Naltrexone Hydrochloride
8 Induction of Regulatory t Cells by Low Dose IL2 in Autoimmune and Inflammatory Diseases: a Transnosographic Approach Recruiting NCT01988506 Phase 2 Interleukin 2
9 A Prospective Observational Study of Infliximab Biosimilar in the Treatment of Takayasu's Arteritis Resistant to Corticosteroids and Conventional Immune-suppressive Treatments Unknown status NCT03192878 Infliximab
10 Effects of Exercise Training in Primary Sjogren´s Syndrome, Myositis and Takayasu's Arteritis Unknown status NCT01501019
11 Autologous Peripheral Blood Stem Cell Transplantation in Patients With Life Threatening Autoimmune Diseases Unknown status NCT00006055 anti-thymocyte globulin;cyclophosphamide;cyclosporine;filgrastim;methylprednisolone;prednisone
12 A Prospective Study of Using Parenchymal Blood Volume(PBV) for Endovascular Treatment of Renal Arterial Stenosis Unknown status NCT03252639
13 ACR/EULAR Endorsed Study to Develop New Diagnostic and Classification Criteria for Primary Systemic Vasculitis Unknown status NCT01066208
14 Impact and Utility of Positron Emission Tomography (PET) for the Assessment of Inflammatory Activity Arteritis Versus Clinical Score and Laboratory Values in Takayasu Arteritis: a Cohort Study Completed NCT01532167
15 Pulmonary Artery Involvement in Takayasu's Arteritis: a Retrospective Study in China Completed NCT03189602
16 The Long-term Success of Cardiovascular Surgery in Takayasu Arteritis. 30 Years of Experience in Mexico, Beyond Forefront Techniques Completed NCT03654222
17 VCRC Imaging Protocol for Magnetic Resonance and Positron Emission Tomography in Large-vessel Vasculitis (Takayasu's Arteritis):Development as Clinical Trial Outcome Measures Completed NCT00744952
18 The Journey of Patients With Vasculitis From First Symptom to Diagnosis Completed NCT03410290
19 Reproductive Health in Men and Women With Vasculitis Completed NCT02176070
20 The Biodistribution of 18F-Clofarabine in Patients With Autoimmune and Inflammatory Diseases Completed NCT02925351
21 Contrast Enhanced Ultrasound for Assessment of Carotid Artery Neovascularization as a Marker of Disease Activity in Takayasu's Arteritis and Giant Cell Arteritis Completed NCT01795456
22 VCRC Validation of Patient-Reported Diagnostic Data Completed NCT02190942
23 Educational Needs of Patients With Systemic Vasculitis- an International Survey Completed NCT02190929
24 Illness Perception, Fatigue, and Function in Systemic Vasculitis (The VCRC Vasculitis Perception (VIP) Study) Completed NCT02190916
25 Evaluation of Yellow Fever Vaccine in Patients With Rheumatic Diseases Under Low Immunosuppression Level and Residing in a Risk Area Completed NCT03430388
26 Impact of Vasculitis on Employment and Income. An Online Survey of Participants in the VCRC Patient Contact Registry Completed NCT02476292
27 A Head-to-Head Comparison of Color Doppler Ultrasonography (CDUS) and Magnetic Resonance Angiography (MRA) in Patients With Systemic Large Vessel Vasculitis (sLVV) - A Cross Sectional Study Completed NCT02042092
28 Registration Study of Takayasu's Arteritis in China Recruiting NCT03199183
29 A Registry Study on Biomarkers of Takayasu's Arteritis Recruiting NCT03372980
30 Comparison of the Efficacy and Safety of Leflunomide Versus Placebo Combine With the Basic Prednisone Therapy in Patients With Active Phase of Takayasu's Arteritis: a Randomized Controlled Double-blinded Trial Recruiting NCT02981979 Leflunomide 10mg Tab;Prednisone Acetate;Placebos
31 China Takayasu Arteritis Registry (CTA Registry) Recruiting NCT02964364
32 Observational Multicenter Study of Refractory and/or Relapsing Takayasu Arteritis START: Study of Refractory and/or Relapsing TAkayasu aRTeritis Recruiting NCT03543527
33 The PET Imaging of Giant Cell and Takayasu Arteritis Study Recruiting NCT04071691
34 Takayasu Arteritis Activity Evaluation by Ultrafast Ultrasound Imaging Recruiting NCT03956394
35 Determining the Association Between Spontaneous Coronary Artery Dissection (SCAD) and Autoimmunity Recruiting NCT03941184
36 The Vasculitis Pregnancy Registry (V-PREG) Recruiting NCT02593565
37 VCRC Tissue Biorepository Collection Protocol Recruiting NCT02967068
38 The Cohort Study of East Chinese Takayasu's Arteritis (ECTA-cohort Study) Recruiting NCT03893136 Leflunomide
39 Exercise in Juvenile Takayasu Disease: a Randomized Controlled Trial Recruiting NCT03494062
40 Clinical Characteristics of Allergy, Autoimmune and Rheumatic Diseases: A Ten Year Retrospective Study Recruiting NCT01611636
41 Aerobic Capacity and Strength Exercise in Takayasu's Arteritis: Impact on Clinical, Laboratory and Vascular Parameters Recruiting NCT03750929
42 VCRC Genetic Repository One-Time DNA Protocol Recruiting NCT01241305
43 Chronic Childhood Vasculitis: Characterizing the Individual Rare Diseases to Improve Patient Outcomes Recruiting NCT02006134
44 Studies of the Natural History, Pathogenesis, and Outcome of Idiopathic Systemic Vasculitis Recruiting NCT02257866
45 VCRC Longitudinal Protocol for Aortitis Active, not recruiting NCT03022331
46 VCRC Longitudinal Protocol for Takayasu's Arteritis Active, not recruiting NCT00315471
47 The Effects and Safety of Drug-coated Balloon in the Treatment of Hypertension Caused by Takayasu Arteritis Associated Renal Artery Stenosis: a Single Centre, Random, Double Blind Trial Not yet recruiting NCT04137614

Search NIH Clinical Center for Atypical Coarctation of Aorta

Genetic Tests for Atypical Coarctation of Aorta

Anatomical Context for Atypical Coarctation of Aorta

MalaCards organs/tissues related to Atypical Coarctation of Aorta:

40
T Cells, Heart

Publications for Atypical Coarctation of Aorta

Articles related to Atypical Coarctation of Aorta:

(show top 50) (show all 121)
# Title Authors PMID Year
1
A Unique Case of Middle Aorta Syndrome With a "Corkscrew" Descending Aorta. 61
31701825 2019
2
A Review of Middle Aortic Syndromes in Pediatric Patients. 61
31412980 2019
3
Middle Aortic Syndrome in a Child-Bearing Age Patient. 61
31614378 2019
4
Diagnosis and differential diagnosis of large-vessel vasculitides. 61
30221327 2019
5
Doppler ultrasonographic and clinical features of middle aortic syndrome. 61
30318593 2019
6
A Case Report of Takayasu's Arteritis and Ulcerative Colitis in a Pediatric Patient with Chronic Recurrent Multifocal Osteomyelitis Successfully Treated with Infliximab: Diagnostic Clues in Disease Associations and Immune Dysregulation. 61
31285932 2019
7
Total arch replacement for aortic arch aneurysm with coexisting middle aortic syndrome. 61
30544040 2019
8
Middle aortic syndrome because of pediatric Takayasu arteritis admitted as acute heart failure: clinical course and therapeutic strategies. 61
30234753 2018
9
Contribution of imaging modalities in the diagnosis of middle aortic syndrome. 61
30190650 2018
10
Management and Outcomes of Childhood Renal Artery Stenosis and Middle Aortic Syndrome. 61
29373648 2018
11
Interventions in children with renovascular hypertension: A 27-year retrospective single-center experience. 61
29635838 2018
12
Stenting for middle aortic syndrome caused by Takayasu arteritis-immediate and long-term outcomes. 61
29359504 2018
13
Paediatric middle aortic syndrome with endovascular treatment in East Malaysia. 61
29531207 2018
14
Endovascular Management of Middle Aortic Syndrome Presenting with Uncontrolled Hypertension. 61
30510836 2018
15
Rare complications of neurofibromatosis 1 diagnosed incidentally in two children. 61
30214218 2018
16
Repeat presentation for middle aortic syndrome 18 years after original repair. 61
29169543 2017
17
Cardiovascular Structure and Function in Children With Middle Aortic Syndrome and Renal Artery Stenosis. 61
28974566 2017
18
Middle aortic syndrome with renal artery stenosis. 61
29423162 2017
19
Takayasu arteritis with middle aortic syndrome and mesenteric ischemia treated by aortic stenting. 61
29349411 2017
20
A rare cause of cardiomyopathy in an infant: middle aortic syndrome. 61
27839529 2017
21
Successful surgical treatment of a subtotal descending aortic occlusion. 61
28470326 2017
22
Case report of a rarely seen long-segment middle aortic syndrome. 61
28424443 2017
23
Thoracic Endovascular Stent Graft Repair of Middle Aortic Syndrome. 61
27549552 2016
24
Unlikely culprit: congenital middle aortic syndrome diagnosed in the sixth decade of life. 61
27530881 2016
25
Middle Aortic Syndrome in Takayasu's Arteritis: Report of Two Surgical Cases. 61
27174347 2016
26
Middle Aortic Syndrome Treated by Implantation of an Advanta V12 Large Diameter Stent. 61
26815649 2016
27
Middle Aortic Syndrome: Imaging and Endovascular Treatment. 61
26664320 2015
28
Surgical treatment of middle aortic syndrome due to Takayasu arteritis. 61
26304483 2015
29
Surgical treatment of middle aortic syndrome with Takayasu arteritis or midaortic dysplastic syndrome. 61
26092621 2015
30
Middle aortic syndrome--an 8-year story of pills, pretty balloons and struts. 61
25953247 2015
31
Disease Beyond the Arch: A Systematic Review of Middle Aortic Syndrome in Childhood. 61
25631383 2015
32
Repair of aortoenteric fistula secondary to graft placement for middle aortic syndrome. 61
25596405 2015
33
Single-site laparoscopic colectomy for rectosigmoid cancer with middle aortic syndrome: report of a case. 61
26366350 2015
34
Duplex ultrasound findings before and after surgery in children and adolescents with renovascular hypertension. 61
25308948 2014
35
Middle aortic syndrome in a teenager. 61
26388599 2014
36
Descending aorta-external iliac artery bypass for middle aortic syndrome. 61
24275906 2014
37
Severe reversible dilated cardiomyopathy associated with a large left ventricular thrombus in a young child with middle aortic syndrome. 61
26236372 2014
38
Middle aortic coarctation. 61
24361384 2014
39
Early and long-term results after reconstructive surgery in 42 children and two young adults with renovascular hypertension due to fibromuscular dysplasia and middle aortic syndrome. 61
24583096 2014
40
Mid-aortic syndrome presenting with unusual stenoses. 61
24977344 2014
41
Successful treatment of a patient with middle aortic syndrome and renovisceral involvement using aorto-aortic bypass: case report and review of recent literature. 61
24184465 2014
42
Aortic stent and renal autotransplantation for the management of renovascular hypertension with Takayasu's arteritis: report of a case. 61
23512530 2014
43
[The middle aortic syndrome: a vascular anomaly in Williams-Beuren syndrome]. 61
22763112 2013
44
Transcatheter double stent implantation for treatment of middle aortic coarctation syndrome. 61
23404776 2013
45
[Middle aortic syndrome: a report of three pediatric cases]. 61
21724214 2013
46
Aortic bypass and bilateral renal autotransplantation for mid-aortic syndrome. 61
23584851 2013
47
Three-year-old child with middle aortic syndrome treated by endovascular stent implantation. 61
22638999 2013
48
Middle aortic syndrome as the cause of renovascular hypertension in a 3-year-old girl: difficulties in the differential diagnosis. 61
23511769 2013
49
Middle aortic syndrome in a 68-year-old woman. 61
23231563 2012
50
Middle aortic syndrome with renal involvement: a staged strategy to manage systemic hypertension. 61
21735518 2012

Variations for Atypical Coarctation of Aorta

ClinVar genetic disease variations for Atypical Coarctation of Aorta:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 JAG1 NM_000214.3(JAG1):c.439+1G>ASNV Pathogenic 213529 rs863223648 20:10644610-10644610 20:10663962-10663962
2 NF1 NM_000267.3(NF1):c.4514+1G>ASNV Pathogenic 439997 rs1279529138 17:29587534-29587534 17:31260516-31260516
3 NF1 NM_000267.3(NF1):c.2540T>C (p.Leu847Pro)SNV Pathogenic/Likely pathogenic 68323 rs199474747 17:29556173-29556173 17:31229155-31229155
4 RNF213 NM_001256071.3(RNF213):c.6169G>A (p.Asp2057Asn)SNV Likely pathogenic 684683 17:78317111-78317111 17:80343311-80343311
5 GATA6 NM_005257.5(GATA6):c.1532C>G (p.Ser511Cys)SNV Likely pathogenic 684684 18:19762916-19762916 18:22182955-22182955
6 JAG1 NM_000214.3(JAG1):c.2092_2093insG (p.Lys698fs)insertion Likely pathogenic 684682 20:10626024-10626025 20:10645376-10645377
7 JAG1 NM_000214.3(JAG1):c.1313G>A (p.Cys438Tyr)SNV Likely pathogenic 684681 20:10630205-10630205 20:10649557-10649557
8 JAG1 NM_000214.3(JAG1):c.2698C>T (p.Arg900Ter)SNV Likely pathogenic 213539 20:10622326-10622326 20:10641678-10641678
9 NF1 NM_000267.3(NF1):c.1260+5G>ASNV Uncertain significance 641476 17:29528508-29528508 17:31201490-31201490
10 NF1 NM_000267.3(NF1):c.1166A>G (p.His389Arg)SNV Uncertain significance 141982 rs149739570 17:29528158-29528158 17:31201140-31201140
11 NF1 NM_000267.3(NF1):c.5164G>C (p.Ala1722Pro)SNV Uncertain significance 237573 rs878853900 17:29653229-29653229 17:31326211-31326211

Expression for Atypical Coarctation of Aorta

Search GEO for disease gene expression data for Atypical Coarctation of Aorta.

Pathways for Atypical Coarctation of Aorta

Pathways related to Atypical Coarctation of Aorta according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.22 NF1 JAG1

GO Terms for Atypical Coarctation of Aorta

Biological processes related to Atypical Coarctation of Aorta according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of cell proliferation GO:0042127 9.26 NF1 JAG1
2 negative regulation of cell migration GO:0030336 9.16 NF1 JAG1
3 cell communication GO:0007154 8.96 NF1 JAG1
4 negative regulation of cell-matrix adhesion GO:0001953 8.62 NF1 JAG1

Sources for Atypical Coarctation of Aorta

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
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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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