Aliases & Classifications for Clubfoot

MalaCards integrated aliases for Clubfoot:

Name: Clubfoot 12 77 56 45 15
Congenital Clubfoot 12 38
Congenital Talipes Equinovarus 12
Equinovarus Deformity of Foot 12
Congenital Equinovarus 12
Club Foot 56

Classifications:



External Ids:

Disease Ontology 12 DOID:11836
KEGG 38 H00903
ICD9CM 36 754.51
MeSH 45 D003025
NCIt 51 C84641
SNOMED-CT 69 15169008 33163000
ICD10 34 Q66.0 Q66.89
UMLS 74 C0009081

Summaries for Clubfoot

Disease Ontology : 12 A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities.

MalaCards based summary : Clubfoot, also known as congenital clubfoot, is related to talipes equinovarus and arthrogryposis, distal, type 1a. An important gene associated with Clubfoot is SLC26A2 (Solute Carrier Family 26 Member 2), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. The drugs Acetylcholine and Botulinum Toxins have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and skeletal muscle, and related phenotypes are Dynamic nuclei (hole, folded or small irregular) and limbs/digits/tail

Wikipedia : 77 Clubfoot is a birth defect where one or both feet are rotated inward and downward. The affected foot and... more...

Related Diseases for Clubfoot

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

(show top 50) (show all 120)
# Related Disease Score Top Affiliating Genes
1 talipes equinovarus 32.7 HOXD13 PITX1
2 arthrogryposis, distal, type 1a 32.1 MYBPC1 TPM2
3 spondyloepiphyseal dysplasia with congenital joint dislocations 31.8 CHST3 SLC26A2
4 spondylocarpotarsal synostosis syndrome 31.4 MYH3 TNNT3 TPM2
5 distal arthrogryposis 29.8 ECEL1 MYBPC1 MYH3 TNNT3 TPM2
6 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 12.6
7 short stature robin sequence cleft mandible hand anomalies clubfoot 12.1
8 familial clubfoot with or without associated lower limb anomalies 12.1
9 robin sequence with cleft mandible and limb anomalies 11.9
10 musculocontractural ehlers-danlos syndrome 11.9
11 arthrogryposis, distal, type 3 11.8
12 tarp syndrome 11.7
13 ehlers-danlos syndrome, musculocontractural type, 1 11.7
14 cyprus facial neuromusculoskeletal syndrome 11.4
15 radial defect robin sequence 11.3
16 moebius syndrome 11.3
17 arthrogryposis, distal, type 2b1 11.3
18 epiphyseal dysplasia, multiple, 4 11.3
19 lambert syndrome 11.2
20 chromosome 17q23.1-q23.2 duplication syndrome 11.2
21 spondyloepimetaphyseal dysplasia, strudwick type 11.2
22 arthrogryposis, distal, type 7 11.2
23 arthrogryposis, distal, type 2a 11.2
24 acromelic frontonasal dysostosis 11.2
25 diastrophic dysplasia 11.1
26 atelosteogenesis, type ii 11.1
27 pseudodiastrophic dysplasia 11.1
28 genitopatellar syndrome 11.1
29 arthrogryposis, distal, type 5d 11.1
30 loeys-dietz syndrome 5 11.1
31 saul-wilson syndrome 11.1
32 hydrocephalus-cleft palate-joint contractures syndrome 11.1
33 larsen syndrome 11.0
34 vertical talus, congenital 11.0
35 orofaciodigital syndrome iv 11.0
36 spondyloperipheral dysplasia 11.0
37 bruck syndrome 2 11.0
38 arthrogryposis, distal, type 1b 11.0
39 epileptic encephalopathy, early infantile, 29 11.0
40 lethal congenital contracture syndrome 11 11.0
41 chromosome 10p duplication 11.0
42 sillence syndrome 11.0
43 chromosome 17q23.1-q23.2 deletion syndrome 10.3 PITX1 TBX4
44 kabuki syndrome 1 10.2
45 neuropathy 10.2
46 myotonic dystrophy 10.2
47 caudal regression sequence 10.2
48 myotonia atrophica 10.2
49 myelomeningocele 10.2
50 ehlers-danlos syndrome 10.2

Graphical network of the top 20 diseases related to Clubfoot:



Diseases related to Clubfoot

Symptoms & Phenotypes for Clubfoot

GenomeRNAi Phenotypes related to Clubfoot according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Dynamic nuclei (hole, folded or small irregular) GR00257-A-1 9.17 CHST14 ECEL1 HOXD13 SLC26A2 TBX4 TNNT3

MGI Mouse Phenotypes related to Clubfoot:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.56 CHST14 HOXC12 HOXD10 HOXD13 PITX1 SLC26A2
2 skeleton MP:0005390 9.28 CHST14 CHST3 ECEL1 HOXD10 HOXD13 PITX1

Drugs & Therapeutics for Clubfoot

Drugs for Clubfoot (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 45)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 51-84-3 187
2 Botulinum Toxins Phase 4,Phase 3,Phase 2,Not Applicable
3 Botulinum Toxins, Type A Phase 4,Phase 3,Phase 2,Not Applicable
4 abobotulinumtoxinA Phase 4,Phase 3,Phase 2,Not Applicable
5 incobotulinumtoxinA Phase 4,Phase 3,Phase 2
6 Acetylcholine Release Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
7 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
8 Neuromuscular Agents Phase 4,Phase 3,Phase 2,Not Applicable
9 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
10 Cholinergic Agents Phase 4,Phase 3,Phase 2,Not Applicable
11 Pharmaceutical Solutions Phase 3,Phase 2,Not Applicable
12 Anesthetics Phase 3,Phase 2,Not Applicable
13
Procaine Approved, Investigational, Vet_approved Phase 2 59-46-1 4914
14
Chloroprocaine Approved Phase 2 133-16-4 8612
15 Hemagglutinins Phase 2
16 Central Nervous System Depressants Phase 2,Not Applicable
17 Anesthetics, Local Phase 2,Not Applicable
18
Hydroxocobalamin Approved Not Applicable 13422-51-0 15589840 11953898
19
Methylcobalamin Approved, Experimental, Investigational Not Applicable 13422-55-4
20
leucovorin Approved Not Applicable 58-05-9 143 6006
21
Lidocaine Approved, Vet_approved Not Applicable 137-58-6 3676
22
Bupivacaine Approved, Investigational Not Applicable 38396-39-3, 2180-92-9 2474
23
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
24
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
25
Calcium Approved, Nutraceutical Not Applicable 7440-70-2 271
26
Cobalamin Experimental Not Applicable 13408-78-1 6857388
27 Astragalus
28 Neuroserpin
29 Analgesics Not Applicable
30 Vitamin B9 Not Applicable
31 Vitamin B Complex Not Applicable
32 Nutrients Not Applicable
33 Trace Elements Not Applicable
34 Vitamin B12 Not Applicable
35 Micronutrients Not Applicable
36 Folate Not Applicable
37 Vitamins Not Applicable
38 Vitamin B 12 Not Applicable
39 Hematinics Not Applicable
40 Anti-Arrhythmia Agents Not Applicable
41 Diuretics, Potassium Sparing Not Applicable
42 Sodium Channel Blockers Not Applicable
43 Vaccines
44 Immunologic Factors
45 Calcium, Dietary Not Applicable

Interventional clinical trials:

(show top 50) (show all 87)
# Name Status NCT ID Phase Drugs
1 Therapeutic Effects of Customized Insoles on Children With Flat Foot Unknown status NCT02414087 Phase 4
2 Effects of Botulinum Neurotoxin Type A (BoNT/A) Free of Complexing Proteins in the Spastic Equinovarus Foot Completed NCT03044080 Phase 4 IncobotulinumtoxinA;OnabotulinumtoxinA
3 Assessment of Gait After Dysport Treatment Recruiting NCT03501043 Phase 4 Dysport
4 Comparison Study of Biofoam Porous Metal Versus Allograft to Treat Adult Acquired Flatfoot Withdrawn NCT00949897 Phase 4
5 Efficacy Study of Selective Tibial Neurotomy in the Treatment of the Spastic Equinovarus Foot Among Adult Hemiplegic Patients Completed NCT00825097 Phase 3 Botulinum toxin injection
6 Study of GSK1358820 In Patients With Post-Stroke Lower Limb Spasticity Completed NCT00460655 Phase 3 GSK1358820;Placebo
7 Dose-response Study of Efficacy and Safety of Botulinum Toxin Type A to Treat Spasticity of the Leg(s) in Cerebral Palsy Completed NCT01893411 Phase 3 IncobotulinumtoxinA (16 Units per kg body weight);IncobotulinumtoxinA (12 Units per kg body weight);IncobotulinumtoxinA (4 Units per kg body weight)
8 Long-term Open-label Study of Botulinumtoxin Type A to Treat Spasticity of Leg(s) or Leg(s) and Arm in Cerebral Palsy Completed NCT01905683 Phase 3 IncobotulinumtoxinA (16-20 Units per kg body weight)
9 Treatment With Xeomin Versus Botox in Children With Spastic Equine and Equinovarus Foot Deformation in Pediatric Cerebral Palsy Completed NCT02188277 Phase 2 Xeomin;Botox®
10 The Efficacy and Safety of Chloroprocaine 1% and 2% in Pediatric Population Undergoing'Calcaneo Stop' Surgery or Inguinal Hernia Repair Enrolling by invitation NCT03918798 Phase 2 Chloroprocaine 1% Injectable Solution;Chloroprocaine 2% Injectable Solution
11 Sucrose Analgesia in Infants Undergoing Casting for Club Foot Unknown status NCT01050088 Not Applicable
12 Efficacy of Botox in Patients With Idiopathic Clubfoot Unknown status NCT00152334 Not Applicable Botox
13 Pedobarographic Assessments of Clubfoot Treated Patients Unknown status NCT00175708
14 Effectiveness of Parents' Manipulation in Newborn With Talipes Calcaneus Unknown status NCT01767662 Not Applicable
15 Effectiveness of Manual Manipulation With EPAT on Ankle Dorsiflexion and Dynamic Plantar Pressure Unknown status NCT02233140 Not Applicable
16 Genetic Disease Gene Identification Unknown status NCT00916903
17 Neuromuscular Study to Assess Foot Intrinsic Muscles Unknown status NCT03154853 Not Applicable
18 Calcaneal Neck Lengthening Osteotomy With Artificial Bone Graft Unknown status NCT01645267 Not Applicable
19 Calcaneal Neck Lengthening Osteotomy in Children With Artificial Bone Graft Unknown status NCT01618812
20 Children Born With Club Feet Completed NCT03671863
21 Clubfoot DNA Repository Completed NCT00607191
22 Exploring the Causes of Clubfoot Using Magnetic Resonance Imaging, MRI Completed NCT01088828
23 Gait Analysis in Children With Clubfoot Treated With Tibialis Anterior Tendon Transfer Completed NCT03953430
24 Gait Analysis in Ponseti Clubfoot Completed NCT02022267
25 Polyaxial Brace Fixing for the Treatment of Congenital Clubfoot Completed NCT02815306 Not Applicable
26 Outcomes of Compliance With Brace Wear in Clubfoot Completed NCT01481324
27 A Randomized Controlled Trial of Three Non-pharmacologic Analgesic Techniques for Casting of Clubfoot Infants Completed NCT02395185 Not Applicable
28 Genetic Linkage Study of Idiopathic Talipes Equinovarus (ITEV) (Clubfoot) Completed NCT00474344
29 Comparison of Casting Materials for the Treatment of Clubfoot Using the Ponseti Method Completed NCT01067651 Not Applicable
30 A Double-Blind, Randomized Control Trial Comparing Botulinum Toxin Type A (Botox) and Placebo in the Treatment of Idiopathic Clubfoot Completed NCT00152347 Not Applicable Botox
31 Development of Child With Equinus Deformity Idiopathic Completed NCT03382028
32 Treatment of Spastic Equinovarus Foot After Stroke Completed NCT00199589 Not Applicable Botulinic toxin (Botox)
33 Efficiency of Botulinum Toxin Injection for Spastic Equinovarus Foot in Post Stroke Hemiparetic Patients Completed NCT03405948 Not Applicable Intra muscular injection of Botulinum toxin
34 Neuro-orthopaedic Surgery in the Treatment of the Spastic Equinovarus Foot Completed NCT01265238
35 Impairments of Oral Language in Mobius Syndrome Completed NCT00856531
36 Post Marketing Surveillance Study of Dysport Completed NCT00210431
37 How Prefabricated Plantar Insoles Can Reduce the Pronation Completed NCT03954821
38 Association of Ingrown Toenails With Flat Foot, Hallux Abducto Valgus and Hallux Limitus Completed NCT03843177
39 Effectiveness of Subtalar Arthroereisis With Endorthesis for Pediatric Flexible Flat Foot Completed NCT03372642
40 Effects on Pes Planus Exercise Training Mixed With Play on Pre-school Children Completed NCT03151538 Not Applicable
41 Cotton Sock in Pediatric Patients With Leg-foot Splint Completed NCT03040882 Not Applicable
42 The Effects of 12-week Custom-made Orthotic Intervention on the Structure and Function of the Foot of Healthy Young Adults During Gait Termination Completed NCT02957812 Not Applicable
43 Comparison of Two Different Insole Types in Painful Flexible Flatfoot Completed NCT02706327 Not Applicable
44 Clinical Trial of the Effect of Functional Orthoses in Children With Flat Feet Completed NCT02633566 Not Applicable
45 Arthroereisis Versus Lateral Column Lengthening in the Treatment of Planovalgus Feet Completed NCT02055495
46 Muscle Fatigue and Foot Biomechanics Completed NCT03607253 Not Applicable
47 Weightbearing Assessment of Tarsal Instability Completed NCT01868789 Not Applicable
48 Polyurethane Foam on the Heel for Prevention in Children Completed NCT03039179 Not Applicable
49 The Development of Flat Foot After Ankle Fractures Completed NCT00507910
50 The Outcome Effect of Shoe Lift for Individuals With Low Back Pain and Pronated Foot Due to Anatomical Leg Length Discrepancy Completed NCT01187693 Not Applicable

Search NIH Clinical Center for Clubfoot

Cochrane evidence based reviews: clubfoot

Genetic Tests for Clubfoot

Anatomical Context for Clubfoot

MalaCards organs/tissues related to Clubfoot:

42
Bone, Skin, Skeletal Muscle, Thyroid, Placenta, Tongue, Spinal Cord

Publications for Clubfoot

Articles related to Clubfoot:

(show top 50) (show all 1041)
# Title Authors Year
1
Management of Clubfoot Relapses With the Ponseti Method: Results of a Survey of the POSNA Members. ( 28178093 )
2019
2
Goebbels´ clubfoot: a case of osteomyelitis? ( 31111421 )
2019
3
Diagnostic accuracy of isolated clubfoot in twin compared to singleton gestations. ( 31091196 )
2019
4
An Analysis of the Mechanical Properties of the Ponseti Method in Clubfoot Treatment. ( 31019550 )
2019
5
Correlations between the Gait Profile Score and standard clinical outcome measures in children with idiopathic clubfoot. ( 31005855 )
2019
6
A comparison study on hindfoot correction, Achilles tendon length and thickness between clubfoot patients treated with percutaneous Achilles tendon tenotomy versus casting alone using Ponseti method. ( 30947613 )
2019
7
A novel 3D evaluation method for assessing bone to bone relationships in clubfoot. ( 30915730 )
2019
8
Clinical outcomes and risk-factor analysis of the Ponseti Method in a low-resource setting: Clubfoot care in Haiti. ( 30870447 )
2019
9
Evaluation of a simple tool to assess the results of Ponseti treatment for use by clubfoot therapists: a diagnostic accuracy study. ( 30867682 )
2019
10
Poor Evertor Muscle Activity is a Predictor of Recurrence in Idiopathic Clubfoot Treated by the Ponseti Method: A Prospective Longitudinal Study With a 5-Year Follow-up. ( 30855553 )
2019
11
ARE SCORING SYSTEMS USEFUL FOR PREDICTING RESULTS OF TREATMENT FOR CLUBFOOT USING THE PONSETI METHOD? ( 30774521 )
2019
12
Factors affecting compliance to hospital visit among clubfoot patients: A cross-sectional study from a tertiary referral clubfoot clinic in the developing country. ( 30744526 )
2019
13
Incidence and risk factors for iatrogenic distal tibia/fibula fracture during Ponseti technique of clubfoot treatment. ( 30741748 )
2019
14
Congenital clubfoot in Europe: A population-based study. ( 30740879 )
2019
15
Simultaneous lateral column shortening along with differential distraction by Joshi's external stabilization system for rigid neglected clubfoot correction. ( 30702637 )
2019
16
Novel contribution to clubfoot pathogenesis: The possible role of extracellular matrix proteins. ( 30615219 )
2019
17
Dimeglio Score Predicts Treatment Difficulty During Ponseti Casting for Isolated Clubfoot. ( 30608304 )
2019
18
The Ponseti method of clubfoot treatment in walking age children: is it effective? A study of 56 children from 1 to 10 years of age. ( 30312250 )
2019
19
Non-motor difficulties in children with idiopathic clubfoot: can this impact brace adherence? ( 30306548 )
2019
20
Proposal of an innovative casting technique for correction of clubfoot according to Ponseti method: a pilot study. ( 30252794 )
2019
21
The top 100 most-cited articles on 'Clubfoot'. ( 30204625 )
2019
22
Comparison of two methods for idiopathic clubfoot treatment: A case-controlled study in Taiwan. ( 30150098 )
2019
23
Neurodevelopmental difficulties in children with idiopathic clubfoot. ( 30132825 )
2019
24
Indicators to assess the functionality of clubfoot clinics in low-resource settings: a Delphi consensus approach and pilot study. ( 29788430 )
2018
25
Relationship between HOX gene and pediatric congenital clubfoot. ( 29805506 )
2018
26
Commentary on: Aesthetic Improvement of Undeveloped Calves After Treatment of Congenital Clubfoot Deformity. ( 29668833 )
2018
27
Casting Is Effective for Recurrence Following Ponseti Treatment of Clubfoot. ( 29916926 )
2018
28
Familial impairment of vocal cord mobility in childhood with clubfoot. ( 29912011 )
2018
29
Correlations between physical and ultrasound findings in congenital clubfoot at birth. ( 29902638 )
2018
30
Finite-element-based 3D computer modeling for personalized treatment planning in clubfoot deformity: Case report with technique description. ( 29901593 )
2018
31
The effectiveness of sustainable serial casting for clubfoot deformity in a low resource setting. ( 29868158 )
2018
32
Identification and treatment of residual and relapsed idiopathic clubfoot in 88 children. ( 29843536 )
2018
33
Evaluation of an E-Learning Course for Clubfoot Treatment in Tanzania: A Multicenter Study. ( 29780890 )
2018
34
Can the Pirani Score Predict the Number of Casts and the Need for Tenotomy in the Management of Clubfoot by the Ponseti Method? ( 29725509 )
2018
35
Does the Ponseti Method for Clubfoot Treatment Stand Up to the March of Time?: Commentary on an article by Lewis E. Zionts, MD, et al.: "Sixty Years On: Ponseti Method for Clubfoot Treatment Produces High Satisfaction Despite Inherent Tendency to Relapse". ( 29715234 )
2018
36
Sixty Years On: Ponseti Method for Clubfoot Treatment Produces High Satisfaction Despite Inherent Tendency to Relapse. ( 29715219 )
2018
37
Pedobarographic Analysis following Ponseti Treatment for Unilateral Neglected Congenital Clubfoot. ( 29674653 )
2018
38
Art in Science: Jusepe de Ribera's Puzzle in The Clubfoot. ( 29601388 )
2018
39
Comparison of Dimeglio and Pirani score in predicting number of casts and need for tenotomy in clubfoot correction using the Ponseti method. ( 29594373 )
2018
40
Commentary on "Clubfoot Does Not Impair Gross Motor Development in 5-Year-Olds". ( 29578995 )
2018
41
Clubfoot Does Not Impair Gross Motor Development in 5-Year-Olds. ( 29578994 )
2018
42
Complex iatrogenic clubfoot: is it a real entity? ( 29578933 )
2018
43
Systematic review and meta-analysis of global birth prevalence of clubfoot: a study protocol. ( 29511012 )
2018
44
What factors impact on the implementation of clubfoot treatment services in low and middle-income countries?: a narrative synthesis of existing qualitative studies. ( 29499667 )
2018
45
Aesthetic Improvement of Undeveloped Calves After Treatment of Congenital Clubfoot Deformity. ( 29474527 )
2018
46
Trimorphic extreme clubfoot deformities and their management by triple surgical skin expanders- DOLAR, DOLARZ and DOLARZ-E (evidence based mega-corrections without arthrodesis). ( 29453587 )
2018
47
The ultrasonography evaluation of talar dysplasia as a potential prognostic factor for predicting the course and outcomes of clubfoot deformity treatment using Ponseti technique. ( 29452895 )
2018
48
Radiographic Prognostic Factors for Selective Soft Tissue Release After Ponseti Failure in Young Pediatric Clubfoot Patients. ( 29448825 )
2018
49
Clubfoot: Limk1 hits a nerve. ( 29439137 )
2018
50
The developmental and genetic basis of 'clubfoot' in the peroneal muscular atrophy mutant mouse. ( 29439133 )
2018

Variations for Clubfoot

Expression for Clubfoot

Search GEO for disease gene expression data for Clubfoot.

Pathways for Clubfoot

GO Terms for Clubfoot

Cellular components related to Clubfoot according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myofibril GO:0030016 8.96 MYBPC1 MYH3
2 myosin filament GO:0032982 8.62 MYBPC1 MYH3

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

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.88 HOXC12 HOXD10 HOXD13 PITX1 TBX4
2 skeletal system development GO:0001501 9.58 HOXD10 HOXD13 PITX1
3 muscle contraction GO:0006936 9.54 MYBPC1 TNNT3 TPM2
4 skeletal muscle contraction GO:0003009 9.46 MYH3 TNNT3
5 limb morphogenesis GO:0035108 9.43 HOXD13 TBX4
6 sarcomere organization GO:0045214 9.33 MYBPC1 MYH3 TNNT3
7 hindlimb morphogenesis GO:0035137 9.32 HOXD10 PITX1
8 regulation of ATPase activity GO:0043462 9.26 TNNT3 TPM2
9 embryonic limb morphogenesis GO:0030326 9.26 HOXD10 HOXD13 MYH3 TBX4
10 muscle filament sliding GO:0030049 8.92 MYBPC1 MYH3 TNNT3 TPM2

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.62 HOXC12 HOXD10 HOXD13 PITX1
2 sulfotransferase activity GO:0008146 9.26 CHST14 CHST3
3 structural constituent of muscle GO:0008307 9.16 MYBPC1 TPM2
4 actin filament binding GO:0051015 9.13 MYBPC1 MYH3 TPM2
5 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.1 HOXC12 HOXD10 HOXD13 PITX1 TBX4 ZNF664

Sources for Clubfoot

3 CDC
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35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
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65 QIAGEN
70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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