Aliases & Classifications for Hair Whorl

MalaCards integrated aliases for Hair Whorl:

Name: Hair Whorl 57 6
Cowlick; Crown 57
Cowlick 57
Crown 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
hair whorl:
Inheritance autosomal dominant inheritance


External Ids:

OMIM® 57 139400
MedGen 41 C1185616
SNOMED-CT via HPO 68 263681008

Summaries for Hair Whorl

MalaCards based summary : Hair Whorl, also known as cowlick; crown, is related to recombinant chromosome 8 syndrome and gingival recession. An important gene associated with Hair Whorl is RHD (Rh Blood Group D Antigen). The drugs Lidocaine and Mepivacaine have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and brain, and related phenotype is abnormal hair morphology.

Wikipedia : 74 A hair whorl is a patch of hair growing in a circular direction around a visible center point. Hair... more...

More information from OMIM: 139400

Related Diseases for Hair Whorl

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

(show top 50) (show all 244)
# Related Disease Score Top Affiliating Genes
1 recombinant chromosome 8 syndrome 11.1
2 gingival recession 11.1
3 amelogenesis imperfecta 11.1
4 alopecia, androgenetic, 1 11.0
5 dentin dysplasia, type i 11.0
6 solitary median maxillary central incisor 11.0
7 androgenic alopecia 11.0
8 temple-baraitser syndrome 11.0
9 incisors, shovel-shaped 10.9
10 pericoronitis 10.9
11 dentinogenesis imperfecta 1 10.9
12 dentinogenesis imperfecta, shields type iii 10.9
13 amelogenesis imperfecta, type iiia 10.9
14 fibromatosis, gingival, 1 10.9
15 incisors, fused mandibular 10.9
16 otodental dysplasia 10.9
17 nance-horan syndrome 10.9
18 fibromatosis, gingival, 5 10.9
19 tooth size 10.6
20 hand skill, relative 10.5
21 root resorption 10.4
22 periodontitis 10.4
23 dental pulp necrosis 10.4
24 teratoma 10.4
25 bone resorption disease 10.3
26 down syndrome 10.3
27 triiodothyronine receptor auxiliary protein 10.3
28 gingivitis 10.3
29 chromosomal triplication 10.3
30 dental caries 10.2
31 cleft lip 10.2
32 cleft lip/palate 10.2
33 rapidly involuting congenital hemangioma 10.2
34 turner syndrome 10.2
35 47,xyy 10.2
36 neurofibromatosis 10.1
37 gonadal dysgenesis 10.1
38 48,xyyy 10.1
39 breast cancer 10.1
40 human immunodeficiency virus type 1 10.1
41 b-lymphoblastic leukemia/lymphoma 10.1
42 pulpitis 10.1
43 allergic disease 10.1
44 ankylosis 10.1
45 posttransplant acute limbic encephalitis 10.1
46 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
47 immune deficiency disease 10.1
48 aging 10.1
49 ectodermal dysplasia 10.1
50 polykaryocytosis inducer 10.0

Graphical network of the top 20 diseases related to Hair Whorl:



Diseases related to Hair Whorl

Symptoms & Phenotypes for Hair Whorl

Human phenotypes related to Hair Whorl:

31
# Description HPO Frequency HPO Source Accession
1 abnormal hair morphology 31 HP:0001595

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Hair:
occipital scalp hair whorl rotation

Clinical features from OMIM®:

139400 (Updated 05-Mar-2021)

Drugs & Therapeutics for Hair Whorl

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

(show top 50) (show all 118)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
2
Mepivacaine Approved, Vet_approved Phase 4 96-88-8 4062
3
Prilocaine Approved Phase 4 721-50-6 4906
4
Methamphetamine Approved, Illicit Phase 4 537-46-2 10836
5
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
6 Pharmaceutical Solutions Phase 4
7 Sodium Channel Blockers Phase 4
8 Diuretics, Potassium Sparing Phase 4
9 Lidocaine, Prilocaine Drug Combination Phase 4
10 Anti-Arrhythmia Agents Phase 4
11 Anti-Infective Agents Phase 4
12 Hormones Phase 4
13 Calcium, Dietary Phase 4
14 Anti-Bacterial Agents Phase 4
15 Dopamine Agents Phase 4
16 Dopamine Uptake Inhibitors Phase 4
17 Central Nervous System Stimulants Phase 4
18 Sympathomimetics Phase 4
19 Neurotransmitter Agents Phase 4
20 Adrenergic Agents Phase 4
21 Antibiotics, Antitubercular Phase 4
22 Antitubercular Agents Phase 4
23 Polymethyl Methacrylate Phase 4
24 Calamus Phase 4
25
Calcium Nutraceutical Phase 4 7440-70-2 271
26
Tyrosine Approved, Investigational, Nutraceutical Phase 3 60-18-4 6057
27 Liver Extracts Phase 3
28
Amoxicillin Approved, Vet_approved Phase 2 26787-78-0 33613
29
Nicotine Approved Phase 1, Phase 2 54-11-5 942 89594
30
Ethanol Approved Phase 2 64-17-5 702
31
Silicon Approved, Investigational Phase 2 7440-21-3 4082203
32
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 68-26-8, 11103-57-4 445354
33
Phenothiazine Experimental, Vet_approved Phase 2 92-84-2
34 Radiation-Protective Agents Phase 2
35 Sunscreening Agents Phase 2
36 Disinfectants Phase 2
37 Photosensitizing Agents Phase 2
38 Anti-Inflammatory Agents Phase 2
39 Locust bean gum Phase 2
40 Antioxidants Phase 2
41 Retinol palmitate Phase 2
42 retinol Phase 2
43
Bismuth Phase 2 7440-69-9 16682734 105143
44 Vitamins Phase 2
45 Antiviral Agents Phase 2
46 Propolis Phase 2
47 Bee Products Phase 2
48
Chlorhexidine Approved, Vet_approved Phase 1 55-56-1 9552079 2713
49 Dermatologic Agents Phase 1
50 Protective Agents Phase 1

Interventional clinical trials:

(show top 50) (show all 226)
# Name Status NCT ID Phase Drugs
1 Clinical Comparison of RPDs Retained by Conical and Galvanoformed Double Crowns. Unknown status NCT00176215 Phase 4
2 Abdominal Midline Incisional Hernia Repair and Functional Outcome: Randomized Controlled Trial to Compare Open and Laparoscopic Surgical Unknown status NCT00625053 Phase 4
3 The Effect of Lidocaine - Prilocaine Cream (EMLA) Versus Mepivacaine Infiltration on Pain Relief During And After Mediolateral Episiotomies: A Randomized Clinical Trial Unknown status NCT03264586 Phase 4 Lidocaine-prilocaine cream;mepivacaine infiltration group
4 Benefit of the Digital Workflow for Screw-retained Single Implant Restorations Completed NCT03234868 Phase 4
5 Immediate Implant Placement in the Posterior Region Combining Socket Seal Abutment and Alveolar Ridge Preservation: Implant, Hard and Soft Tissue Outcomes After 1 Year Completed NCT04553146 Phase 4
6 Prefabricated Endodontic Posts: Glass Fiber Versus Titanium - A Randomized Controlled Pilot- Trial Completed NCT01520766 Phase 4
7 Zirconia-based and Metal-based Single Crown Posterior Restorations: 5-year Results of a Randomized Controlled Clinical Study. Completed NCT02758457 Phase 4
8 Esthetic Outcomes of Implant-supported Crowns After Alveolar Ridge Preservation With Beta Tricalcium Phosphate and Collagen in the Maxillary Esthetic Zone Completed NCT02507661 Phase 4 preservation of alveolar ridge with beta tricalcium phosphate + collagen - 2 months;no-preservation of alveolar ridge - 2 months;preservation of alveolar ridge with beta tricalcium phosphate + collagen - 4 months;no-preservation of alveolar ridge - 4 months;no-preservation of alveolar ridge - 9 months
9 Unipedicular vs. Bipedicular Kyphoplasty for the Treatment of Osteoporotic Vertebral Fractures Completed NCT01383616 Phase 4
10 The Clinical Comparative Evaluation Of Postoperative Pain In Single-Visit And Multiple-Visit Pretreatment Cases: A Prospective Randomized Clinical Trial Completed NCT03042377 Phase 4 Multiple-Visit-"Calcium Hydroxide";Multiple-Visit-"Corticosteroid Paste";Multiple-Visit-"Antibiotic Paste"
11 Difference in Salivary Flow in Patients With Salivary Gland Hypofunction of the Following Application of Neuro-electrostimulation Unknown status NCT01174329 Phase 2, Phase 3
12 Clinical Evaluation of Cemented and Angulated Screw-retained Crowns Following Immediate Implant Placement: a Randomized Controlled Clinical Trials Completed NCT04160247 Phase 3
13 Phase 3- Clinical Trial on Children. PROTOCOL 465-549 Completed NCT01359475 Phase 3
14 Safety and Effectiveness of Thermal Ablation Combined With Anlotinib and TQB2450 Solution for Advanced Hepatocelualr Carcinoma Not yet recruiting NCT04665609 Phase 3 Anlotinib and TQB2450 solution;TQB2450 solution
15 Endodontic Treatment of Primary Teeth With Guedes-Pinto Paste Without Antibiotic: Randomized Non-inferiority Clinical Trial Suspended NCT03839485 Phase 3 Endodontic treatment using Guedes-Pinto Paste;Endodontic using Guedes-Pinto Paste without antibiotic
16 Patient Satisfaction and Clinical Assessment of Biocompatible High Performance Polymers Crown Veneered With Visio.Lign Versus E-max Crown Veneered With E-max Veneering System in Anterior Aesthetic Zone.(Randomized Controlled Clinical Trial) Unknown status NCT02929173 Phase 2
17 Clinical, Microbiological and Quality of Life Outcomes Following Use of Systemic and Local Antimicrobials in the Management of Odontogenic Infections in Paediatric Patients Completed NCT03761264 Phase 2 Odontopaste®;Pulpdent;Amoxicillin
18 Periodontal Dressing After Surgical Crown Lengthening: A Randomized Clinical Trial Completed NCT01986959 Phase 2
19 Electroacupuncture for Major Depression: A Pilot Study Completed NCT00071110 Phase 2
20 Evaluating the Acute Effects of Electronic Nicotine Delivery Devices Marketed to Smokers. Completed NCT00932295 Phase 1, Phase 2
21 Application Success of Photodynamic Therapy and Diode Laser During Endodontic Therapy of Young Permanent Teeth Completed NCT03074136 Phase 2 0.5% Sodium hypochlorite
22 Postoperative Pain Evaluation of Mineral Trioxide Aggregate and Propolis After Pulpotomy in Carious Primary Molars: A Randomized Controlled Trial Active, not recruiting NCT03580135 Phase 2 Propolis;Mineral Trioxide Aggregate
23 Examination of the Immersion of Provisional Crown Material in Chlorhexidine Gluconate on Dental Plaque Formation in Vivo Completed NCT00259181 Phase 1
24 Effect of Provisional-Crown Surface Coating on Biofilm Formation Completed NCT00254345 Phase 1
25 A Clinical Evaluation of Hand-veneered, Porcelain-fused NobelProcera(TM) Crown Shaded Zirconia and NobelProcera(TM) Full Contour Crown IPS e.Max CAD on Molars Unknown status NCT01835821
26 Clinical Evaluation of Laminate Veneers With Coronal Post Versus Post and Core Foundation Restoration With Single Crown for Restoration of Endodontically Treated Anterior Teeth (Randomized Controlled Trial) "In-vivo Study" Unknown status NCT03314545
27 The Influence of Porcelain Fused to Metal ( PFM) and Zirconia Crowns on Periodontal Health Unknown status NCT02461823
28 Influences of Different Temporary Cement on Retention Rate and Dental Sensitivity of Temporary Crown on Vital Teeth - Randomized Clinical Trial Unknown status NCT03437629
29 Validation and Clinical Assessment of Clinical and Radiological Classification of the Jawbone Anatomy in Endosseous Dental Implant Treatment Unknown status NCT02054676 Medications.
30 Evaluation of Plaque Removal Using Different Plaque Control Therapies Around Single Crown Dental Implants and Splinted Implant Crowns in Patients Under 3 Months Maintenance;a Randomized Clinical Trial Unknown status NCT02091609
31 Evaluation of Esthetic and Biomechanical Outcome of Maxillary Anterior Single-Tooth Zirconia Implant Supported PEKK Crowns Versus Lithium Disilicate Crowns on PEKK Abutments: Randomized Controlled Trial Unknown status NCT03521024
32 Evaluation of Patient Satisfaction, Color Difference, Marginal Integrity and Survival of Bruxzir Zirconia Complete Coverage Crowns With Feather Edge Versus Deep Chamfer Finish Line Marginal Design. Unknown status NCT03303742
33 The Value of Prenatal Ultrasound in the Diagnosis and Monitoring of Complicated Twin Pregnancy and Its Correlation With Chromosomal Anomalies of Twin Unknown status NCT02732717
34 Influence of Resin Cement Composition on the Longevity of Intraradicular Post in the Rehabilitation of Endodontically Treated Teeth - Randomized Clinical Trials Unknown status NCT03491527
35 Survival of Abutment Teeth of Removable Partial Dentures Rehabilitated With Post-retained Restorations: Randomized Clinical Trial Unknown status NCT03466437
36 Randomized Controlled Clinical Trial of a New NuSmile ZR Esthetic Primary Molar Crown Unknown status NCT01919515
37 Short vs Standard Implants in Maxilla: a Randomized Clinical Trial Unknown status NCT03479333
38 Immediate Implant Placement After Tooth Extraction in the Esthetic Zone: Extraction Socket Morphology-Guided Treatment Modalities and Esthetic Outcome Unknown status NCT01533571
39 Influence of Superstructure Material on Crestal Bone Resorption and Esthetic Outcome of Dental Implants Unknown status NCT02937220
40 Hand and Engine-driven Techniques for Endodontic Retreatment: Randomized Clinical Trial Unknown status NCT03743233
41 Clinical Evaluation of Wear Behavior of Human Enamel and Chipping of Veneered Zirconia Against Monolithic Zirconia (Randomized Controlled Clinical Trial) Unknown status NCT03295513
42 Evaluation of the Soft Tissue Stability Around Single Crowns Supported by Tissue Level Implants Placed in Non-augmented Healed Sites in the Anterior Maxilla: a Retrospective Study Unknown status NCT02061930
43 Clinical Assessment of Color Stability and Patient Satisfaction for Polished Versus Glazed Lithium Disilicate Glass Ceramic Restorations and Patient Satisfaction Unknown status NCT03696641
44 One Year Clinical Evaluation of Milled BioHPP Polyetheretherketone (PEEK)-Based Versus Metal Ceramic Single Crowns Unknown status NCT03685513
45 Evaluation of the Esthetic Outcome of Lithium Disilicate (e.Max) All Ceramic Crowns on Titanium Implant Abutments in the Esthetic Zone After Different Color Masking Approaches; a Randomized Clinical Trial Unknown status NCT03686267
46 Patient Satisfaction and Crestal Bone Loss of Polymer Infiltrated Ceramic Network Versus Lithium Disilicate Implant Hybrid Abutment Crowns in Esthetic Zone Unknown status NCT03333889
47 Clinical Evaluation of Gingival Margin Stability Following Conventional Versus Microsurgical Techniques of Esthetic Crown Lengthening Unknown status NCT03804281
48 A Cohort Research of Genetic Susceptibility for Common Obesity in Women (CROWN Study) Unknown status NCT01488903
49 An Open, Prospective, Single Cohort, Multi-centre Study Evaluating the NobelReplace Conical Connection Implants Supported Single -Unit Crowns in the Maxilla. Unknown status NCT02175550
50 Evaluation of Patient Satisfaction and Adaptation After Elevation of Vertical Dimension of Occlusion in Patients With Compensated Tooth Surface Loss Using Partial Overlay Denture or Fixed Temporary Crowns Unknown status NCT03579134

Search NIH Clinical Center for Hair Whorl

Genetic Tests for Hair Whorl

Anatomical Context for Hair Whorl

MalaCards organs/tissues related to Hair Whorl:

40
Bone, Heart, Brain, Liver, Breast, Cortex, Skin

Publications for Hair Whorl

Articles related to Hair Whorl:

(show top 50) (show all 29086)
# Title Authors PMID Year
1
Human handedness and scalp hair-whorl direction develop from a common genetic mechanism. 57 61
14504234 2003
2
Frizzled6 controls hair patterning in mice. 57
15169958 2004
3
Incidence of double occipital hair whorls in twins and singletons. 57
3454518 1987
4
The FG syndrome: 7 new cases. 57
4017279 1985
5
Integrated impacts of tree planting and aspect ratios on thermal environment in street canyons by scaled outdoor experiments. 61
33172638 2021
6
Do cone age and heating mode determine the opening of serotinous cones during wildfires? A new bench scale approach applied to Pinus halepensis Mill. 61
33383513 2021
7
Oxygen consumption rate of lees during sparkling wine (Cava) aging; influence of the aging time. 61
33051100 2021
8
COX-2 promotes mammary adipose tissue inflammation, local estrogen biosynthesis, and carcinogenesis in high-sugar/fat diet treated mice. 61
33429006 2021
9
New insights into the phylogeny and evolution of lady beetles (Coleoptera: Coccinellidae) by extensive sampling of genes and species. 61
33352317 2021
10
Use of 3-dimensional-Printed Guide in Hemisection and Autotransplantation of a Fusion Tooth: A Case Report. 61
33352149 2021
11
Rehabilitation of one-piece screw-retained implant crowns placed at second-stage surgery-a retrospective patient series. 61
32638129 2021
12
Genetic variants in tooth agenesis-related genes might be also involved in tooth size variations. 61
32648061 2021
13
A comparative study of human betacoronavirus spike proteins: structure, function and therapeutics. 61
33483791 2021
14
Plant mitochondria and chloroplasts are targeted by the Rhizoctonia solani RsCRP1 effector. 61
33550013 2021
15
Distinguished properties of cells isolated from the dentin-pulp interface. 61
33212174 2021
16
Reconstruction and analysis of a genome-scale metabolic model for Agrobacterium tumefaciens. 61
33433944 2021
17
A new model of classification of third molars development and its correlation with chronological age in a Brazilian subpopulation. 61
32840664 2021
18
Mapping the amelogenin protein expression during porcine molar crown development. 61
33400984 2021
19
Antimicrobial, antioxidant, volatile and phenolic profiles of cabbage-stalk and pineapple-crown flour revealed by GC-MS and UPLC-MSE. 61
32889131 2021
20
Multinucleated Giant Cells in Adipose Tissue Are Specialized in Adipocyte Degradation. 61
33158932 2021
21
Prostate and testicular growth analysis in human fetuses during the second gestational trimester. 61
33393689 2021
22
Comparative osteology of the hynobiid complex Liua-Protohynobius-Pseudohynobius (Amphibia, Urodela): Ⅰ. Cranial anatomy of Pseudohynobius. 61
32964448 2021
23
Root canal treatment of compromised teeth as alternative treatment for patients receiving bisphosphonates: 60-month results of a prospective clinical study. 61
32901962 2021
24
Targeting the CRD F-face of Human Galectin-3 and Allosterically Modulating Glycan Binding by Angiostatic PTX008 and a Structurally Optimized Derivative. 61
33156953 2021
25
Tackling a Curious Case: Generation of Charge-Tagged Guanosine Radicals by Gas-Phase Electron Transfer and Their Characterization by UV-vis Photodissociation Action Spectroscopy and Theory. 61
33567214 2021
26
Early implant placement and peri-implant augmentation with a porcine-derived acellular dermal matrix and synthetic bone in the aesthetic area: a 2-year follow-up prospective cohort study. 61
32680808 2021
27
Visual detection of trace lead(II) using a forward osmosis-driven device loaded with ion-responsive nanogels. 61
33039826 2021
28
Expanding the Nonaqueous Chemistry of Neptunium: Synthesis and Structural Characterization of [Np(NR2)3Cl], [Np(NR2)3Cl]-, and [Np{N(R)(SiMe2CH2)}2(NR2)]- (R = SiMe3). 61
33539075 2021
29
Comparing effectiveness of rubber dam and gingival displacement cord with copy abutment in reducing residual cement in cement-retained implant crowns: A crossover RCT. 61
33595848 2021
30
An All-in-One Solid State Thin-Layer Potentiometric Sensor and Biosensor Based on Three-Dimensional Origami Paper Microfluidics. 61
33579006 2021
31
Reassessment of the phylogenetic relationships of the late Miocene apes Hispanopithecus and Rudapithecus based on vestibular morphology. 61
33495351 2021
32
Mononitration of a Calix[4]arene Methylene Bridge: Synthesis and Preliminary Catalysis Performances of Bridging Chiral p-tert-Butylcalix[4]arenes with a Monoamino Bridge Substituent in a 1,3-Alternate Conformation. 61
33577735 2021
33
Confirmation of a wear-compensation mechanism in dental roots of ruminants. 61
32314555 2021
34
A comparative analysis of the vestibular apparatus in Epipliopithecus vindobonensis: Phylogenetic implications. 61
33422741 2021
35
Automatic Digital Design of the Occlusal Anatomy of Monolithic Zirconia Crowns Compared to Dental Technicians' Digital Waxing: A Controlled Clinical Trial. 61
33009865 2021
36
Supplementation with high-dose cholecalciferol throughout pregnancy induces fetal growth restriction through inhibiting placental proliferation and trophoblast epithelial-mesenchymal transition. 61
33548476 2021
37
Chamberless Endodontic Access for Treatment of Calcified Anterior Central Incisors. 61
33129898 2021
38
Effect of chemical alternatives to methyl bromide on soil-borne disease incidence and fungal populations in Spanish strawberry nurseries: A long-term study. 61
32896102 2021
39
Selecting Double Bond Positions with a Single Cation-Responsive Iridium Olefin Isomerization Catalyst. 61
33555191 2021
40
Accuracy of cold sensibility testing on teeth with full coverage restorations: a clinical study. 61
33550601 2021
41
Silver diamine fluoride treatment of active root caries lesions in older adults: A case series. 61
33347946 2021
42
Direct Detection of Free and Counterion-Bound Carbanions by Electrospray-Ionization Mass Spectrometry. 61
33599503 2021
43
A laboratory study to detect simulated pulpal blood flow in extracted human teeth using ultrasound Doppler flowmetry. 61
32931061 2021
44
Dentigerous cyst formation following trauma to the primary incisors: A case report. 61
32815279 2021
45
Post-fire redistribution of 137Cs and algal communities in contaminated forest soils in Belarus. 61
33296861 2021
46
Effect of Milling Protocols on Trueness and Precision of Ceramic Crowns. 61
32856358 2021
47
A clinical and radiographic study of implants placed in autogenous bone grafts covered by either a platelet-rich fibrin membrane or deproteinised bovine bone mineral and a collagen membrane: a pilot randomised controlled clinical trial with a 2-year follow-up. 61
33554323 2021
48
Mechanical stability and technical outcomes of monolithic CAD/CAM fabricated abutment-crowns supported by titanium bases: An in vitro study. 61
33258267 2021
49
Occlusal stress distribution and remaining crack propagation of a cracked tooth treated with different materials and designs: 3D finite element analysis. 61
33589271 2021
50
Evaluation of a Technique for Reducing Chairside Occlusal Adjustment of Crowns. 61
32881153 2021

Variations for Hair Whorl

Expression for Hair Whorl

Search GEO for disease gene expression data for Hair Whorl.

Pathways for Hair Whorl

GO Terms for Hair Whorl

Sources for Hair Whorl

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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