Aliases & Classifications for Clubfoot

MalaCards integrated aliases for Clubfoot:

Name: Clubfoot 12 76 55 44 15
Congenital Clubfoot 12 37
Congenital Talipes Equinovarus 12
Equinovarus Deformity of Foot 12
Congenital Equinovarus 12
Club Foot 55

Classifications:



External Ids:

Disease Ontology 12 DOID:11836
ICD10 33 Q66.0 Q66.89
ICD9CM 35 754.51
MeSH 44 D003025
NCIt 50 C84641
SNOMED-CT 68 15169008 33163000
KEGG 37 H00903
UMLS 73 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 Acetylcholine Release Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and thyroid, and related phenotypes are Dynamic nuclei (hole, folded or small irregular) and limbs/digits/tail

Wikipedia : 76 Clubfoot is a birth defect where one or both feet are rotated inwards and downwards. The affected foot,... more...

Related Diseases for Clubfoot

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

(show top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 talipes equinovarus 32.1 HOXD13 PITX1
2 arthrogryposis, distal, type 1a 32.0 MYBPC1 TPM2
3 spondyloepiphyseal dysplasia with congenital joint dislocations 31.7 CHST3 SLC26A2
4 spondylocarpotarsal synostosis syndrome 31.4 MYH3 TNNT3 TPM2
5 arthrogryposis, distal, type 5 31.4 MYH3 TNNT3 TPM2
6 distal arthrogryposis 29.8 ECEL1 MYBPC1 MYH3 TNNT3 TPM2
7 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 12.6
8 short stature robin sequence cleft mandible hand anomalies clubfoot 12.0
9 familial clubfoot with or without associated lower limb anomalies 12.0
10 musculocontractural ehlers-danlos syndrome 11.8
11 arthrogryposis, distal, type 3 11.7
12 robin sequence with cleft mandible and limb anomalies 11.7
13 tarp syndrome 11.7
14 ehlers-danlos syndrome, musculocontractural type, 1 11.6
15 cyprus facial neuromusculoskeletal syndrome 11.3
16 adducted thumbs dundar type 11.3
17 radial defect robin sequence 11.3
18 moebius syndrome 11.2
19 epiphyseal dysplasia, multiple, 4 11.2
20 spondyloepimetaphyseal dysplasia, strudwick type 11.1
21 lambert syndrome 11.1
22 chromosome 17q23.1-q23.2 duplication syndrome 11.1
23 arthrogryposis, distal, type 7 11.1
24 arthrogryposis, distal, type 2a 11.1
25 acromelic frontonasal dysostosis 11.1
26 diastrophic dysplasia 11.1
27 atelosteogenesis, type ii 11.1
28 pseudodiastrophic dysplasia 11.1
29 genitopatellar syndrome 11.1
30 arthrogryposis, distal, type 5d 11.1
31 loeys-dietz syndrome 5 11.1
32 hydrocephalus-cleft palate-joint contractures syndrome 11.1
33 larsen syndrome 10.9
34 vertical talus, congenital 10.9
35 orofaciodigital syndrome iv 10.9
36 spondyloperipheral dysplasia 10.9
37 bruck syndrome 2 10.9
38 arthrogryposis, distal, type 1b 10.9
39 epileptic encephalopathy, early infantile, 29 10.9
40 lethal congenital contracture syndrome 11 10.9
41 saul-wilson syndrome 10.9
42 chromosome 10p duplication 10.9
43 sillence syndrome 10.9
44 chromosome 17q23.1-q23.2 deletion syndrome 10.2 PITX1 TBX4
45 kabuki syndrome 1 10.2
46 neuropathy 10.2
47 myotonic dystrophy 10.2
48 myotonia atrophica 10.2
49 myelomeningocele 10.1
50 ehlers-danlos syndrome 10.1

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:

26
# 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:

46
# 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 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Not Applicable 51-84-3 187
2 Acetylcholine Release Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
3 Botulinum Toxins, Type A Phase 4,Phase 3,Phase 2,Not Applicable
4 Cholinergic Agents Phase 4,Phase 3,Phase 2,Not Applicable
5 abobotulinumtoxinA Phase 4,Phase 3,Phase 2,Not Applicable
6 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
7 onabotulinumtoxinA Phase 4,Phase 3,Phase 2,Not Applicable
8 Botulinum Toxins Phase 4,Phase 3,Phase 2,Not Applicable
9 incobotulinumtoxinA Phase 4,Phase 3,Phase 2
10 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
11 Neuromuscular Agents Phase 4,Phase 3,Phase 2,Not Applicable
12 Pharmaceutical Solutions Phase 3,Phase 2,Not Applicable
13 Anesthetics Phase 3
14 Hemagglutinins Phase 2
15
Hydroxocobalamin Approved Not Applicable 13422-51-0 11953898 44475014
16
Methylcobalamin Approved, Experimental, Investigational Not Applicable 13422-55-4
17
leucovorin Approved Not Applicable 58-05-9 6006 143
18
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
19
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
20
Cobalamin Experimental Not Applicable 13408-78-1 6438156
21 Neuroserpin
22 Astragalus
23 Analgesics Not Applicable
24 Vitamins Not Applicable
25 Micronutrients Not Applicable
26 Vitamin B9 Not Applicable
27 Vitamin B Complex Not Applicable
28 Folate Not Applicable
29 Hematinics Not Applicable
30 Trace Elements Not Applicable
31 Vitamin B 12 Not Applicable
32 Vitamin B12 Not Applicable
33 Calcium, Dietary Not Applicable

Interventional clinical trials:

(show top 50) (show all 78)
# 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 Sucrose Analgesia in Infants Undergoing Casting for Club Foot Unknown status NCT01050088 Not Applicable
11 Efficacy of Botox in Patients With Idiopathic Clubfoot Unknown status NCT00152334 Not Applicable Botox
12 Pedobarographic Assessments of Clubfoot Treated Patients Unknown status NCT00175708
13 Effectiveness of Parents' Manipulation in Newborn With Talipes Calcaneus Unknown status NCT01767662 Not Applicable
14 Effectiveness of Manual Manipulation With EPAT on Ankle Dorsiflexion and Dynamic Plantar Pressure Unknown status NCT02233140 Not Applicable
15 Genetic Disease Gene Identification Unknown status NCT00916903
16 Calcaneal Neck Lengthening Osteotomy With Artificial Bone Graft Unknown status NCT01645267 Not Applicable
17 Calcaneal Neck Lengthening Osteotomy in Children With Artificial Bone Graft Unknown status NCT01618812
18 Children Born With Club Feet Completed NCT03671863
19 Clubfoot DNA Repository Completed NCT00607191
20 Exploring the Causes of Clubfoot Using Magnetic Resonance Imaging, MRI Completed NCT01088828
21 Gait Analysis in Ponseti Clubfoot Completed NCT02022267
22 Polyaxial Brace Fixing for the Treatment of Congenital Clubfoot Completed NCT02815306 Not Applicable
23 Outcomes of Compliance With Brace Wear in Clubfoot Completed NCT01481324
24 A Randomized Controlled Trial of Three Non-pharmacologic Analgesic Techniques for Casting of Clubfoot Infants Completed NCT02395185 Not Applicable
25 Genetic Linkage Study of Idiopathic Talipes Equinovarus (ITEV) (Clubfoot) Completed NCT00474344
26 Comparison of Casting Materials for the Treatment of Clubfoot Using the Ponseti Method Completed NCT01067651 Not Applicable
27 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
28 Development of Child With Equinus Deformity Idiopathic Completed NCT03382028
29 Treatment of Spastic Equinovarus Foot After Stroke Completed NCT00199589 Not Applicable Botulinic toxin (Botox)
30 Efficiency of Botulinum Toxin Injection for Spastic Equinovarus Foot in Post Stroke Hemiparetic Patients Completed NCT03405948 Not Applicable Intra muscular injection of Botulinum toxin
31 Neuro-orthopaedic Surgery in the Treatment of the Spastic Equinovarus Foot Completed NCT01265238
32 Impairments of Oral Language in Mobius Syndrome Completed NCT00856531
33 Post Marketing Surveillance Study of Dysport Completed NCT00210431
34 Effectiveness of Subtalar Arthroereisis With Endorthesis for Pediatric Flexible Flat Foot Completed NCT03372642
35 Effects on Pes Planus Exercise Training Mixed With Play on Pre-school Children Completed NCT03151538 Not Applicable
36 Cotton Sock in Pediatric Patients With Leg-foot Splint Completed NCT03040882 Not Applicable
37 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
38 Comparison of Two Different Insole Types in Painful Flexible Flatfoot Completed NCT02706327 Not Applicable
39 Clinical Trial of the Effect of Functional Orthoses in Children With Flat Feet Completed NCT02633566 Not Applicable
40 Arthroereisis Versus Lateral Column Lengthening in the Treatment of Planovalgus Feet Completed NCT02055495
41 Muscle Fatigue and Foot Biomechanics Completed NCT03607253 Not Applicable
42 Weightbearing Assessment of Tarsal Instability Completed NCT01868789 Not Applicable
43 Polyurethane Foam on the Heel for Prevention in Children Completed NCT03039179 Not Applicable
44 The Development of Flat Foot After Ankle Fractures Completed NCT00507910
45 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
46 Bracing Compliance and Personality Traits: A Compliance Assessment Program for Scoliosis and Clubfeet Recruiting NCT02755766
47 Prospective Evaluation of Treatment for Clubfoot Recruiting NCT02257229
48 Efficacy Analysis of Minimally Invasive Carroll's Technique in Treatment of Congenital Idiopathic Clubfoot Recruiting NCT02815215 Early Phase 1
49 Using Botox to Treat Patients With Idiopathic Clubfoot Recruiting NCT00474032 Not Applicable Botulinum Toxin (Type A) injection (10 U/Kg)
50 MiracleFeet Foot Abduction Brace Sensor Trial Recruiting NCT03249805 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:

41
Bone, Skin, Thyroid, Skeletal Muscle, Placenta, Tongue

Publications for Clubfoot

Articles related to Clubfoot:

(show top 50) (show all 1016)
# Title Authors Year
1
Clubfoot Etiology: A Meta-Analysis and Systematic Review of Observational and Randomized Trials. ( 29917009 )
2018
2
Relationship between HOX gene and pediatric congenital clubfoot. ( 29805506 )
2018
3
Finite-element-based 3D computer modeling for personalized treatment planning in clubfoot deformity: Case report with technique description. ( 29901593 )
2018
4
Familial impairment of vocal cord mobility in childhood with clubfoot. ( 29912011 )
2018
5
Recurrent Casting for Recurrent Clubfoot . . . A Triumph of Technique Over Reason or the New Norm?: Commentary on an article by Veroniek M. van Praag, MD, MA, et al.: "Casting Is Effective for Recurrence Following Ponseti Treatment of Clubfoot". ( 29916939 )
2018
6
Identification and treatment of residual and relapsed idiopathic clubfoot in 88 children. ( 29843536 )
2018
7
Percutaneous achillotomy in the treatment of congenital clubfoot: should it be performed in the operating theater or the polyclinic? ( 29921297 )
2018
8
Gross Motor Function at 10 Years of Age in Children With Clubfoot Following the French Physical Therapy Method and the Ponseti Technique. ( 29965933 )
2018
9
Commentary on: Aesthetic Improvement of Undeveloped Calves After Treatment of Congenital Clubfoot Deformity. ( 29668833 )
2018
10
Sixty Years On: Ponseti Method for Clubfoot Treatment Produces High Satisfaction Despite Inherent Tendency to Relapse. ( 29715219 )
2018
11
The developmental and genetic basis of 'clubfoot' in the peroneal muscular atrophy mutant mouse. ( 29439133 )
2018
12
Percutaneous heel cord release for clubfoot: a retrospective, multicentre cost analysis. ( 29951127 )
2018
13
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
14
Casting Is Effective for Recurrence Following Ponseti Treatment of Clubfoot. ( 29916926 )
2018
15
Correlations between Physical and Ultrasound Findings in Congenital Clubfoot at Birth. ( 29902638 )
2018
16
Incidence of congenital idiopathic clubfoot in the Netherlands. ( 29965828 )
2018
17
Clubfoot: Limk1 hits a nerve. ( 29439137 )
2018
18
Pedobarographic Analysis following Ponseti Treatment for Unilateral Neglected Congenital Clubfoot. ( 29674653 )
2018
19
Radiographic Prognostic Factors for Selective Soft Tissue Release After Ponseti Failure in Young Pediatric Clubfoot Patients. ( 29448825 )
2018
20
The effectiveness of sustainable serial casting for clubfoot deformity in a low resource setting. ( 29868158 )
2018
21
Evaluation of an E-Learning Course for Clubfoot Treatment in Tanzania: A Multicenter Study. ( 29780890 )
2018
22
Indicators to assess the functionality of clubfoot clinics in low-resource settings: a Delphi consensus approach and pilot study. ( 29788430 )
2018
23
Descriptive Epidemiology of Congenital Clubfoot Deformity in Sri Lanka. ( 29394982 )
2018
24
Development of an orthosis for simultaneous three-dimensional correction of clubfoot deformity. ( 29232570 )
2018
25
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
26
Comparison of two methods for idiopathic clubfoot treatment: A case-controlled study in Taiwan. ( 30150098 )
2018
27
Motor abilities in 182 children treated for idiopathic clubfoot: a comparison between the traditional and the Ponseti method and controls. ( 30154930 )
2018
28
Reply to the Letter to the Editor: Art in Science: Jusepe de Ribera's Puzzle in The Clubfoot. ( 30179967 )
2018
29
Letter to the Editor: Art in Science: Jusepe de Ribera's Puzzle in The Clubfoot. ( 30188346 )
2018
30
Francisco Arceo de Fregenal and the treatment of clubfoot up to the sixteenth century. ( 30198271 )
2018
31
Midterm Results of the Ponseti Method for Treatment of Clubfoot in Patients With Spina Bifida. ( 30199458 )
2018
32
The top 100 most-cited articles on 'Clubfoot'. ( 30204625 )
2018
33
Reply to the Letter to the Editor: Art in Science: Jusepe de Ribera's Puzzle in The Clubfoot. ( 30211708 )
2018
34
The feasibility of a training course for clubfoot treatment in Africa: A mixed methods study. ( 30212532 )
2018
35
Clubfoot treatment in 2015: a global perspective. ( 30233830 )
2018
36
Botulinum Toxin Type A Versus Placebo for Idiopathic Clubfoot: A Two-Center, Double-Blind, Randomized Controlled Trial. ( 30234623 )
2018
37
Needle or Knife at Hindfoot Stall?: Commentary on an article by Christine M. Alvarez, MD, FRCSC, MSc, et al.: "Botulinum Toxin Type A Versus Placebo for Idiopathic Clubfoot. A Two-Center, Double-Blind, Randomized Controlled Trial". ( 30234633 )
2018
38
Letter to the Editor: Art in Science: Jusepe de Ribera's Puzzle in The Clubfoot. ( 30247229 )
2018
39
Proposal of an innovative casting technique for correction of clubfoot according to Ponseti method: a pilot study. ( 30252794 )
2018
40
Range of motion in the talo-navicular and the calcaneo-cuboid joints evaluated by ultrasound during clubfoot treatment with normal references up to the age of four years. ( 30294379 )
2018
41
Non-motor difficulties in children with idiopathic clubfoot: can this impact brace adherence? ( 30306548 )
2018
42
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 )
2018
43
Timing for Ponseti clubfoot management: does the age matter? 90 children (131 feet) with a mean follow-up of 5 years. ( 30334643 )
2018
44
Radiological assessment of congenital talipes equinovarus (clubfoot): Is it worthwhile? ( 30336403 )
2018
45
Quantifying joint stiffness in clubfoot patients. ( 30388514 )
2018
46
Development and validation of a delayed presenting clubfoot score to predict the response to Ponseti casting for children aged 2-10. ( 30443789 )
2018
47
The Ponseti method in children with clubfoot after walking age - Systematic review and metanalysis of observational studies. ( 30457993 )
2018
48
Rapid decrease of cast-induced forces during the treatment of clubfoot using the Ponseti method. ( 30499315 )
2018
49
Functional Outcomes Following Treatment for Clubfoot: Ten-Year Follow-up. ( 30516624 )
2018
50
Clubfoot Treatment in High and Low-Income Regions Produces Functional Feet: Commentary on articles by Kelly A. Jeans, MS, et al.: "Functional Outcomes Following Treatment for Clubfoot. Ten-Year Follow-up," and Bibek Banskota, MRCS, MS, et al.: "Outcomes of the Ponseti Method for Untreated Clubfeet in Nepalese Patients Seen Between the Ages of One and Five Years and Followed for at Least 10 Years". ( 30516636 )
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
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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