MCID: TTH004
MIFTS: 41

Tethered Spinal Cord Syndrome

Categories: Fetal diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Tethered Spinal Cord Syndrome

MalaCards integrated aliases for Tethered Spinal Cord Syndrome:

Name: Tethered Spinal Cord Syndrome 12 20 53 15 17
Spinal Dysraphism 12 29 6
Occult Spinal Dysraphism Sequence 20
Segmental Vertebral Anomalies 20
Tethered Spinal Cord Disease 74
Occult Spinal Dysraphism 20
Tethered Cord Syndrome 20
Tethered Cord 6

Classifications:



External Ids:

Disease Ontology 12 DOID:1089
SNOMED-CT 67 282784007
UMLS 71 C0560648

Summaries for Tethered Spinal Cord Syndrome

NINDS : 53 Tethered spinal cord syndrome is a neurological disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column.  Attachments may occur congenitally at the base of the spinal cord (conus medullaris) or they may develop near the site of an injury to the spinal cord.  These attachments cause an abnormal stretching of the spinal cord.  The course of the disorder is progressive.  In children, symptoms may include lesions, hairy patches, dimples, or fatty tumors on the lower back; foot and spinal deformities; weakness in the legs; low back pain; scoliosis; and incontinence.  This type of tethered spinal cord syndrome appears to be the result of improper growth of the neural tube during fetal development, and is closely linked to spina bifida.  Tethered spinal cord syndrome may go undiagnosed until adulthood, when pain, sensory and motor problems, and loss of bowel and bladder control emerge.  This delayed presentation of symptoms is related to the degree of strain placed on the spinal cord over time and may be exacerbated during sports or pregnancy, or may be due to narrowing of the spinal column (stenosis) with age. Tethering may also develop after spinal cord injury and scar tissue can block the flow of fluids around the spinal cord.  Fluid pressure may cause cysts to form in the spinal cord, a condition called syringomyelia.  This can lead to additional loss of movement, feeling or the onset of pain or autonomic symptoms.

MalaCards based summary : Tethered Spinal Cord Syndrome, also known as spinal dysraphism, is related to mature teratoma and spinal cord lipoma. An important gene associated with Tethered Spinal Cord Syndrome is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase). The drugs Drospirenone and Mineralocorticoid Receptor Antagonists have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, skin and bone, and related phenotype is neoplasm.

GARD : 20 Tethered cord syndrome is a rare neurological condition. The severity of the condition and the associated signs and symptoms vary from person to person. In some cases, symptoms may be present at birth (congenital), while others may not experience symptoms until later in adulthood. Features of the condition may include foot and spinal abnormalities; weakness in the legs; loss of sensation (feeling) in the lower limbs; lower back pain; scoliosis; and urinary incontinence. Infants and children with congenital tethered cord syndrome may also have tufts of hair, dimples, skin discoloration, or benign fatty tumors on the lower back. Tethered cord syndrome occurs when tissue attachments limit the movement of the spinal cord within the spinal column. In some cases, it may be the result of improper growth of the neural tube during fetal development, which is closely linked to spina bifida. Other potential causes include narrowing of the spinal column (with age), spinal cord injury, tumors, and infection. Treatment varies based on the signs and symptoms present in each person and the severity of the condition but may include surgery and medications to manage pain.

Wikipedia : 74 Tethered cord syndrome (TCS) refers to a group of neurological disorders that relate to malformations of... more...

Related Diseases for Tethered Spinal Cord Syndrome

Diseases related to Tethered Spinal Cord Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 277)
# Related Disease Score Top Affiliating Genes
1 mature teratoma 30.6 BRAF AFP
2 spinal cord lipoma 30.2 VANGL1 COX8C AFP
3 sacral defect with anterior meningocele 30.2 VANGL1 MNX1
4 currarino syndrome 30.2 VANGL1 MNX1
5 meningocele 30.1 VANGL1 MNX1 GRHL3 AFP
6 spina bifida occulta 29.9 VANGL1 MTHFD1
7 anencephaly 29.4 VANGL1 MTHFD1 GRHL3 AFP
8 omphalocele 29.4 MTHFD1 MNX1 AFP
9 neural tube defects 29.3 VANGL1 NKX2-8 MTHFD1 MNX1 GRHL3 AFP
10 primary tethered cord syndrome 11.4
11 structural brain anomalies with impaired intellectual development and craniosynostosis 11.2
12 bladder exstrophy and epispadias complex 11.1
13 medeira-dennis-donnai syndrome 11.1
14 hydrocephalus 10.6
15 hemangioma 10.5
16 myelocystocele 10.5
17 myelomeningocele 10.5
18 syringomyelia, noncommunicating isolated 10.5
19 syringomyelia 10.5
20 chiari malformation 10.5
21 teratoma 10.4
22 hypertrichosis 10.4
23 lipomatosis, multiple 10.4
24 lipomyelomeningocele 10.4
25 pleomorphic lipoma 10.4
26 cystic teratoma 10.4
27 lumbosacral lipoma 10.4
28 diastematomyelia 10.4
29 anorectal anomalies 10.3
30 benign teratoma 10.3
31 spinal cord injury 10.3
32 vesicoureteral reflux 1 10.3
33 anus, imperforate 10.3
34 urinary tract infection 10.3
35 hydronephrosis 10.3
36 neurenteric cyst 10.3
37 neurogenic bladder 10.3
38 muscular atrophy 10.3
39 epidermoid cysts 10.2
40 paraplegia 10.2
41 47,xyy 10.2
42 syringohydromyelia 10.2
43 spina bifida cystica 10.2
44 nonseminomatous germ cell tumor 10.2 BRAF AFP
45 sacrococcygeal teratoma 10.2 MNX1 AFP
46 scoliosis 10.2
47 chiari malformation type ii 10.2
48 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.2
49 detrusor sphincter dyssynergia 10.2
50 constipation 10.2

Graphical network of the top 20 diseases related to Tethered Spinal Cord Syndrome:



Diseases related to Tethered Spinal Cord Syndrome

Symptoms & Phenotypes for Tethered Spinal Cord Syndrome

MGI Mouse Phenotypes related to Tethered Spinal Cord Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.02 AFP BRAF CREBBP GRHL3 NKX2-8

Drugs & Therapeutics for Tethered Spinal Cord Syndrome

Drugs for Tethered Spinal Cord Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Drospirenone Approved Phase 3 67392-87-4 68873
2 Mineralocorticoid Receptor Antagonists Phase 3
3 diuretics Phase 3
4 Diuretics, Potassium Sparing Phase 3
5 Calcium, Dietary Phase 3
6 Drospirenone and ethinyl estradiol combination Phase 3
7 Mineralocorticoids Phase 3
8
Calcium Nutraceutical Phase 3 7440-70-2 271
9
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
10
Mycophenolic acid Approved Phase 2 24280-93-1 446541
11
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
12 Immunosuppressive Agents Phase 2
13 Antibiotics, Antitubercular Phase 2
14 Antifungal Agents Phase 2
15 Antitubercular Agents Phase 2
16 Immunologic Factors Phase 2
17 Antilymphocyte Serum Phase 2
18 Antirheumatic Agents Phase 2
19 Thymoglobulin Phase 2
20 Cyclosporins Phase 2
21 Dermatologic Agents Phase 2
22 Calcineurin Inhibitors Phase 2
23
Cefotaxime Approved 63527-52-6 456256 5742673
24
Cefoxitin Approved 35607-66-0 441199
25
Rifampicin Approved 13292-46-1 5458213 5381226
26
Caffeine Approved 58-08-2 2519
27
Metformin Approved 657-24-9 14219 4091
28
Pamidronate Approved 40391-99-9 4674
29
mometasone furoate Approved, Investigational, Vet_approved 83919-23-7
30
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
31
tannic acid Approved 1401-55-4
32 Insulin, Globin Zinc
33 Hypoglycemic Agents
34 insulin
35 Cola
36 Anti-Infective Agents, Local
37 Pharmaceutical Solutions
38 Calamus
39 Anesthetics
40 Anesthetics, General

Interventional clinical trials:

(show top 50) (show all 87)
# Name Status NCT ID Phase Drugs
1 Multi-Center, Randomized, Double-Blind Active-Controlled, Parallel Group Study to Investigate Plasma Folate, Red Blood Cell Folate and Homocysteine Levels During a 24 Week Oral Administration of an OC Containing Folate Compared to OC Alone Completed NCT00468481 Phase 3 Drospirenone/Ethinylestradiol/Methyltetrahydrofolate;Drospirenone/Ethinylestradiol (Yaz)
2 A Randomized, Double-Blind, Two-Part, Parallel-Group, Comparative Study to Evaluate Blood Folate Levels in Women Taking an Oral Contraceptive With and Without Folic Acid Withdrawn NCT00301587 Phase 3 Norgestimate-ethinyl estradiol, with or without folic acid
3 Post Transplant Infusion of Allogeneic Cytokine Induced Killer Cells as Consolidative Therapy After Non-Myeloablative Allogeneic Transplantation in Patients With Myelodysplasia or Myeloproliferative Disorders Completed NCT01392989 Phase 2 CIK cells;Cyclosporine;Mycophenolate Mofetil;Thymoglobulin
4 Lumbar to Sacral Ventral Nerve Re-Routing Completed NCT00378664 Phase 2
5 Coping Skills Training (CST) for Children With Chronic Health Conditions: An Extension From Children With Diabetes to Children With Rheumatologic Conditions, Epilepsy, Spina Bifida, and Asthma Completed NCT00359775 Phase 2
6 Probiotics Improvement of Gastrointestinal and Genitourinary Health in Girls With Spina Bifida (H-23245) Withdrawn NCT00767988 Phase 2
7 Prevention of Neural Tube Defects by Inositol in Conjunction With Folic Acid (PONTI Study) Completed NCT00452829 Phase 1 Folic Acid and inositol;Folic acid and placebo
8 Study to Compare 2 Minimally Invasive Fetal Neural Tube Defect Repair Techniques: Repair Using Durepair Patch vs. Repair Without Durepair Patch Recruiting NCT03794011 Phase 1
9 Minimally Invasive Fetal Neural Tube Defect Repair Study Active, not recruiting NCT02230072 Phase 1
10 Open Spina Bifida Fetoscopic Repair Project Unknown status NCT03562286
11 Efficacy and Safety of Nerve Root Axial Decompression Surgery in The Treatment of Tethered Cord Syndrome: A Conservative Treatment- Controlled, Randomized, Clinical Study Unknown status NCT03262844
12 Assessment of Functional Independence and Quality of Life in Italian Population of Adolescents With Spina Bifid Unknown status NCT00966927
13 A Peer E-mentoring Intervention to Improve Transition to Employment for Youth With Physical Disabilities Unknown status NCT02522507
14 Incidence of Pregnancies and Births With Spina Bifida in Denmark in 2008-2014 Unknown status NCT02685813
15 Genetics of Neural Tubes Defects Unknown status NCT01253746
16 The Spina Bifida Research Resource Unknown status NCT00031122
17 Post-operative Use of Lite Run in a Pediatric Population With Cerebral Palsy Unknown status NCT03135145
18 Anorectal Dysfunction in Patients Suffering From Spina Bifida : From Clinic to Neuro-epithelial Function Unknown status NCT02440984
19 Interrater and Intrarater Reliability of Infant Motor Profile: Assessing Motor Profiles of Risky Infants Unknown status NCT03188107
20 Powder Topical Rifampicin on Reducing Infections After Neural Tube Defect Surgery in Infants Unknown status NCT03198819 Local Rifampisin and İnrtravenous cefotaxime
21 Urological Deterioration in Secondary Tethered Cord Syndrome and Clue to Detect It Completed NCT04483570
22 Impact of Prenatal Correction of Spina Bifida Using Fetoscopy and the SAFER Technique on Long-term Neurodevelopment. Completed NCT04356703
23 Use of a Diurnal Indwelling Urethral Catheter to Improve Quality of Life for Patients With Spina Bifida and Spinal Cord Injury Completed NCT03573726
24 Influence of "Espresso" on Adsorption of Orally Administrated Myo-inositol in Humans Completed NCT01244399
25 Blood Folate and Homocysteine Levels Following Administration of Folic Acid According to Different Daily Dosing Schedules:a Simulation of Food Fortification Completed NCT00207558 folic acid
26 A Comparison of the Incidence of Symptomatic Urinary Tract Infections in Children With Spina Bifida Using Hydrophilic or Non-hydrophilic Polyvinyl Chloride Catheters for Clean Intermittent Catheterization: a Randomized Cross Over Trial Completed NCT01263392
27 Improving Genetic Counseling for Patients With Spina Bifida Using Next Generation Sequencing Completed NCT02854150
28 Pilot Study of Folate Pharmacokinetics in Normal Weight and Obese Women of Child-bearing Age Completed NCT01743196
29 Metformin in Children With Motor Deficit Completed NCT00720161 Metformin;placebo
30 The Relationship Between Nocturnal Enuresis And Spina Bifida Occulta: A Prospective Controlled Trial Completed NCT03543995
31 Urinary Markers of Detrusor Overactivity in Spina Bifida Patients Completed NCT02852317
32 Dosage Effects of Folic Acid on Blood Folates of Honduran Women Completed NCT00207532 folic acid
33 Myelomeningocele Repair Randomized Trial Completed NCT00060606
34 Cognitive Rehabilitation in Patients With Spina Bifida: Effects on Executive Functions, Psychological and Health Related Factors Completed NCT01302314
35 Parental Perspectives of Using Modified Toy Cars on the Social Interactions of Preschool Children With Mobility Impairments. Completed NCT02682043
36 An Audit of the Posterior Fossa Characterization in Open Spina Bifida Based on Tertiary Center Experience Completed NCT03544970
37 Fetal Spina Bifida -Prenatal Course and Outcome in 103 Cases A Single Center Experience. Completed NCT01100697
38 Efficacy of Weekly Versus Daily Folic Acid Supplementation Completed NCT00394862 multivitamin
39 Prevention of Post Operative Bone Loss in Children Completed NCT00655681 pamidronate
40 The LETS Study: A Longitudinal Evaluation of Transition Services Completed NCT00975338
41 Medication Management Among Individuals With Neurodevelopmental Disabilities Completed NCT03121651
42 3D-printed Module-assisted Minimally Invasive Lumbar Pedicle Screw Placement: a Retrospective, Self-controlled, Open-label Clinical Trial Completed NCT02970578
43 The Effectiveness of Participation-focused Interventions on Body Functions of Youth With Physical Disabilities: An Interrupted Time Series Design Completed NCT03851107
44 Randomized Clinical Trial Using Sterile Single-use and Reused Polyvinylchloride Catheter For Intermittent Catheterization With Clean Technique In Neurogenic Bladder Due to Spina Bifida Completed NCT03424499
45 Efficacy of a Wheelchair Propulsion Training Program for Manual Wheelchair Users: a Pilot Study Completed NCT04009187
46 Is Neutrophil to Lymphocyte Ratio a Prognostic Factor of Sepsis in Newborns With Operated Neural Tube Defects? Completed NCT04135274
47 Computer-based and Virtual Assessment of Power Wheelchair Mobility Completed NCT00951509
48 Investigation of Parents' Anxiety Level and Health Related Quality of Life in Different Types of Physical Disabilities Completed NCT04035967
49 Retrograde Colonic Irrigation to Manage Spina Bifida Functional Digestive Sequelae: a Multicenter, Prospective, Randomized Controlled Trial Completed NCT02361450
50 Evaluating the Effectiveness of a Serious Game to Enhance Self-Management Skills Among Adolescents and Young Adults With Spinal Cord Dysfunction Completed NCT02341950

Search NIH Clinical Center for Tethered Spinal Cord Syndrome

Genetic Tests for Tethered Spinal Cord Syndrome

Genetic tests related to Tethered Spinal Cord Syndrome:

# Genetic test Affiliating Genes
1 Spinal Dysraphism 29

Anatomical Context for Tethered Spinal Cord Syndrome

MalaCards organs/tissues related to Tethered Spinal Cord Syndrome:

40
Spinal Cord, Skin, Bone, Prostate, Neutrophil, Kidney, Brain

Publications for Tethered Spinal Cord Syndrome

Articles related to Tethered Spinal Cord Syndrome:

(show top 50) (show all 1201)
# Title Authors PMID Year
1
Unveiling the tale of the tail: an illustration of spinal dysraphisms. 61
31811517 2021
2
A Practical Approach to Diagnosis of Spinal Dysraphism. 61
33449837 2021
3
Experience with human tail and its outcome. 61
33595541 2021
4
Interpeduncular angle: A new parameter for assessing intracranial hypotension in fetuses with spinal dysraphism. 61
33480068 2021
5
Infected congenital cervical dermal sinuses leading to spinal cord abscess: two case reports and a review of the literature. 61
32632578 2021
6
Large central disc herniation causing cauda equina syndrome in an adolescent. A case report. 61
33454631 2021
7
Growth profile assessment of young adults with tethered cord syndrome: a retrospective cohort analysis of Korean conscription data. 61
33392650 2021
8
Congenital Midline Spinal Hamartoma in a 5-Month-Old Infant. 61
32949805 2021
9
Tethered spinal cord related to caudal spinal dysraphism in a tailless Holstein calf. 61
33191387 2021
10
Treatment of a Chronic, Nonhealing Neuropathic Ulcer in a Pediatric Patient With Spinal Dysraphism: A Case Report. 61
33290251 2020
11
Caput membranaceum: A novel clinical presentation of ZIC1 related skull malformation and craniosynostosis. 61
32975022 2020
12
Rapid Magnetic Resonance Imaging of the Spine in Neonates with Spinal Dysraphism. 61
32961357 2020
13
MRI characteristics of the fetal tethered spinal cord: a comparative study. 61
33272085 2020
14
Embryology of Spinal Dysraphism and its Relationship to Surgical Treatment. 61
32314684 2020
15
Structured MRI reporting in spinal dysraphism. 61
32054289 2020
16
Co-existent epidermoid and dermoid in a child with spinal dysraphism. 61
33200294 2020
17
A rare case of lumbosacrococcygeal mass in newborn: a human tail. 61
33274041 2020
18
Long-term outcomes of artificial urinary sphincter in female patients with spina bifida. 61
33197064 2020
19
Intraspinal epidermoid and dermoid cysts-tumor resection with multimodal intraoperative neurophysiological monitoring and long-term outcome. 61
32524245 2020
20
Cervical myelomeningocele with CSF leakage: a case-based review. 61
32621007 2020
21
Anatomy-based diagnostic criteria for complex body wall anomalies (CBWA). 61
32856427 2020
22
Association of spina bifida with cancer. 61
33209709 2020
23
Neurocutaneous melanocytosis (melanosis). 61
33048248 2020
24
Segmental spinal dysgenesis with open spinal dysraphism and Chiari II features, case report. 61
32874392 2020
25
Intraoperative Neurophysiology Monitoring for Spinal Dysraphism. 61
32905697 2020
26
Use of fast-sequence spine MRI in pediatric patients. 61
32947256 2020
27
Expression Patterns of Hypoxia-Inducible Factors, Proinflammatory, and Neuroprotective Cytokines in Neuroepithelial Tissues of Lumbar Spinal Lipomas-A Pilot Study. 61
32522652 2020
28
Posterior Cranial Fossa Maldevelopment in Infants with Repaired Open Myelomeningoceles: Double Trouble or a Dynamic Process of Posterior Cranial Fossa Abnormalities? 61
32585377 2020
29
[Cutaneous signs of occult cranial and spinal dysraphism]. 61
32340727 2020
30
Tethered Cord Syndrome in the United States Cluster Analysis of Presenting Anomalies and Associated. 61
32857021 2020
31
Extradural thoracic meningeal cyst without spinal dysraphism causing adulthood myelopathy: Case illustration and review of the literature. 61
32600974 2020
32
Repair of giant lumbosacral pseudomeningocele with fast-resorbing polymer mesh in a pediatric patient operated for posterior dysraphism. 61
32314024 2020
33
Sacral Extradural Angiolipoma Associated with Tight Filum Terminale and Spina Bifida Coexisting with Spinal Arteriovenous Fistula. 61
32407913 2020
34
Four-hour voiding observation with provocation test reveals significant abnormalities of bladder function in newborns with spinal dysraphism. 61
32782223 2020
35
Duplication of the Inferior Vena Cava Associated with Open Spinal Dysraphism. 61
32747974 2020
36
Long-term urological assessment and management of cloaca patients: A single tertiary institution experience. 61
32778449 2020
37
Incidence of Occult Spinal Dysraphism Among Infants With Cutaneous Stigmata and Proportion Managed With Neurosurgery: A Systematic Review and Meta-analysis. 61
32614421 2020
38
Anatomical Variations That Can Lead to Spine Surgery at the Wrong Level: Part III Lumbosacral Spine. 61
32864257 2020
39
First report of Vibrio cholerae O9, novel st520, isolated from a child with bacteraemia-associated sepsis. 61
33154272 2020
40
First Report of Vibrio cholerae O9, Novel ST520, Isolated from a Child with Bacteraemia-Associated Sepsis. 61
33589212 2020
41
Spinal dysraphism as a new entity in V.A.C.TE.R.L syndrome, resulting in a novel acronym V.A.C.TE.R.L.S. 61
32055959 2020
42
Giant Terminal Myelocystocele: A Case Report. 61
33531948 2020
43
Neuraxial dysraphism in EPAS1-associated syndrome due to improper mesenchymal transition. 61
32337341 2020
44
Variation in Management of Cutaneous Lumbosacral Findings in Newborns. 61
32404330 2020
45
Myelomeningocele sac associated with worse lower-extremity neurological sequelae: evidence for prenatal neural stretch injury? 61
31613408 2020
46
Perspectives on Spinal Dysraphism : Past, Present, and Future. 61
32392668 2020
47
Spinal Dysraphism in the Last Two Decades : What I Have Seen during the Era of Dynamic Advancement. 61
32336058 2020
48
Preface : Invited Issue Editor Professor Dachling Pang and the Changing Concepts in Spinal Dysraphism during the Last Two Decades. 61
32336062 2020
49
Fetal open spinal dysraphism repair through a mini-hysterotomy: Influence of gestational age at surgery on the perinatal outcomes and postnatal shunt rates. 61
32112579 2020
50
Urological Evaluation of Tethered Cord Syndrome. 61
32392667 2020

Variations for Tethered Spinal Cord Syndrome

ClinVar genetic disease variations for Tethered Spinal Cord Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BRAF NM_001374258.1(BRAF):c.1720G>C (p.Gly574Arg) SNV Pathogenic 13980 rs180177041 7:140476806-140476806 7:140777006-140777006
2 AMOTL1 NM_130847.3(AMOTL1):c.479C>T (p.Pro160Leu) SNV Likely pathogenic 929484 11:94532835-94532835 11:94799669-94799669
3 CREBBP NM_004380.3(CREBBP):c.6185_6195del (p.Ile2062fs) Deletion Likely pathogenic 523472 rs1555471098 16:3778853-3778863 16:3728852-3728862

Expression for Tethered Spinal Cord Syndrome

Search GEO for disease gene expression data for Tethered Spinal Cord Syndrome.

Pathways for Tethered Spinal Cord Syndrome

GO Terms for Tethered Spinal Cord Syndrome

Biological processes related to Tethered Spinal Cord Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to nerve growth factor stimulus GO:1990090 8.62 BRAF ACAP2

Sources for Tethered Spinal Cord Syndrome

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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