MCID: ARC002
MIFTS: 49

Arachnoiditis

Categories: Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Arachnoiditis

MalaCards integrated aliases for Arachnoiditis:

Name: Arachnoiditis 12 73 20 53 44 15 70
Familial Spinal Arachnoiditis 70
Spinal Arachnoiditis 20

Classifications:



Summaries for Arachnoiditis

GARD : 20 Arachnoiditis is a pain disorder caused by inflammation of the arachnoid, one of the membranes that surrounds and protects the nerves of the spinal cord. The inflammation may occur due to irritation from chemicals; infection; direct injury to the spine; chronic compression of spinal nerves; or complications from spinal surgery or other spinal procedures. It may result in scar tissue and adhesions, which cause the spinal nerves to "stick" together. If arachnoiditis affects the function of nerves, it can cause symptoms such as numbness, tingling, and a characteristic stinging and burning pain in the lower back or legs. In some people. it may affect the bladder, bowel, and sexual function. Very severe arachnoiditis can result in paralysis of the legs. Treatment aims to relieve pain and improve symptoms that impair function. Treatment may include pain medications, physical therapy, and psychotherapy. Surgical treatment is controversial because it offers only short-term relief and may increase formation of scar tissue.

MalaCards based summary : Arachnoiditis, also known as familial spinal arachnoiditis, is related to cauda equina syndrome and epidural abscess. An important gene associated with Arachnoiditis is CRP (C-Reactive Protein), and among its related pathways/superpathways are Innate Immune System and 4-1BB Pathway. The drugs Acetaminophen and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and lung, and related phenotypes are muscle weakness and hearing impairment

NINDS : 53 Arachnoiditis is caused by the inflammation of the arachnoid, one of the membranes that surround and protect the nerves of the spinal cord.  The arachnoid can become inflamed because of an irritation from chemicals, infection from bacteria or viruses, as the result of direct injury to the spine, chronic compression of spinal nerves, or complications from spinal surgery or other invasive spinal procedures.  Inflammation can sometimes lead to the formation of scar tissue and adhesions, which cause the spinal nerves to “stick” together. If arachnoiditis begins to interfere with the function of one or more of these nerves, it can cause a number of symptoms, including chronic and persistent pain,  numbness, tingling, and a characteristic stinging and burning pain in the lower back or legs.  Some people with arachnoiditis will have debilitating muscle cramps, twitches, or spasms.  It may also affect bladder, bowel, and sexual function.  In severe cases, arachnoiditis may cause paralysis of the lower limbs.

Wikipedia : 73 Arachnoiditis is an inflammatory condition of the arachnoid mater or 'arachnoid', one of the membranes... more...

Related Diseases for Arachnoiditis

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

(show top 50) (show all 632)
# Related Disease Score Top Affiliating Genes
1 cauda equina syndrome 30.9 POMC CRP
2 epidural abscess 30.5 CRP CD4
3 acute retrobulbar neuritis 30.3 CRP AQP4
4 spondylitis 30.3 TNF IL1B CRP
5 encephalitis 30.3 TNF IL1B AQP4
6 central nervous system tuberculosis 30.3 TNF CD4
7 spondylolisthesis 30.2 TAC1 CRP
8 neuritis 30.2 TNF IL1B AQP4
9 papilledema 30.1 CRP CD4 AQP4
10 intracranial hypertension 30.0 TNF IL1B AQP4
11 neurotic disorder 29.9 TNF POMC
12 meningitis 29.9 TNF IL1B IL1A CRP AQP4
13 bacterial meningitis 29.9 TNF IL1B CRP AQP4
14 optic neuritis 29.8 TNF IL1B AQP4
15 arthropathy 29.8 TNF IL1B CRP
16 syphilis 29.8 TNF CRP CD4
17 neurosarcoidosis 29.8 TNF CRP CD4 AQP4
18 miliary tuberculosis 29.8 TNF CRP CD4
19 panuveitis 29.8 TNF CRP CD4
20 pain agnosia 29.7 TNF TAC1 POMC IL1B
21 suppurative otitis media 29.7 IL1B CRP
22 constipation 29.5 TNF TAC1 CRP AQP4
23 mononeuropathy 29.5 TNF TAC1 CRP CD4
24 spinal disease 29.5 TNF IL1B CRP
25 fungal meningitis 29.5 TNF CD4
26 fibromyalgia 29.4 TNF POMC IL1B CRP
27 cranial nerve palsy 29.4 UNC13D POMC CRP CD4 AQP4
28 osteomyelitis 29.4 TNF IL1B IL1A CRP
29 optic nerve disease 29.4 TNF IL1B CRP CD4 AQP4
30 disease by infectious agent 29.3 TNF IL1B CRP CD4
31 meningoencephalitis 29.3 TNF TAC1 IL1B CRP CD4
32 aseptic meningitis 29.2 TNF IL1B IL1A CRP
33 vascular disease 29.2 TNF IL1A CRP CD4
34 uveitis 29.2 TNF IL1B IL1A
35 aspergillosis 29.1 TNF IL1B IL1A
36 spinal cord disease 29.1 TNF IL1B CRP CD4 AQP4
37 sarcoidosis 1 29.1 TNF IL1B IL1A CRP CD4
38 otitis media 29.0 TNF IL1B IL1A CRP
39 immune deficiency disease 28.4 TNF IL1B IL1A CRP CD4 AQP4
40 connective tissue disease 28.2 TOP1 TNF IL1B IL1A CRP CD4
41 spinal arachnoiditis 11.6
42 syringomyelia 11.2
43 syringomyelia, noncommunicating isolated 11.1
44 tuberculous meningitis 10.5
45 hydrocephalus 10.4
46 mediastinum teratoma 10.4 POMC CRP
47 paraplegia 10.4
48 interval angle-closure glaucoma 10.3 TAC1 CRP
49 benign essential hypertension 10.3 POMC CRP
50 neurogenic arthropathy 10.3 TAC1 CRP

Graphical network of the top 20 diseases related to Arachnoiditis:



Diseases related to Arachnoiditis

Symptoms & Phenotypes for Arachnoiditis

Human phenotypes related to Arachnoiditis:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 hallmark (90%) HP:0001324
2 hearing impairment 31 hallmark (90%) HP:0000365
3 arthralgia 31 hallmark (90%) HP:0002829
4 abnormality of vision 31 hallmark (90%) HP:0000504
5 paresthesia 31 hallmark (90%) HP:0003401
6 meningitis 31 hallmark (90%) HP:0001287
7 hyporeflexia 31 hallmark (90%) HP:0001265
8 tinnitus 31 hallmark (90%) HP:0000360
9 anhidrosis 31 frequent (33%) HP:0000970
10 hydrocephalus 31 occasional (7.5%) HP:0000238
11 fatigue 31 occasional (7.5%) HP:0012378
12 migraine 31 occasional (7.5%) HP:0002076
13 urinary bladder sphincter dysfunction 31 occasional (7.5%) HP:0002839

Drugs & Therapeutics for Arachnoiditis

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

(show top 50) (show all 76)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetaminophen Approved Phase 4 103-90-2 1983
2 Pharmaceutical Solutions Phase 4
3 Analgesics Phase 4
4 Antipyretics Phase 4
5 Analgesics, Non-Narcotic Phase 4
6
Mesna Approved, Investigational Phase 2, Phase 3 3375-50-6 598
7
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
8 Immunosuppressive Agents Phase 2, Phase 3
9 Immunologic Factors Phase 2, Phase 3
10 Antirheumatic Agents Phase 2, Phase 3
11 Alkylating Agents Phase 2, Phase 3
12
Thalidomide Approved, Investigational, Withdrawn Phase 2 50-35-1 5426
13
Ephedrine Approved Phase 2 299-42-3 9294
14
Morphine Approved, Investigational Phase 2 57-27-2 5288826
15
Atropine Approved, Vet_approved Phase 2 5908-99-6, 51-55-8 174174
16
Pseudoephedrine Approved Phase 2 90-82-4 7028
17
Bupivacaine Approved, Investigational Phase 2 38396-39-3, 2180-92-9 2474
18 Anti-Infective Agents Phase 2
19 Angiogenesis Inhibitors Phase 2
20 Anti-Bacterial Agents Phase 2
21 Respiratory System Agents Phase 2
22 Central Nervous System Stimulants Phase 2
23 Anti-Arrhythmia Agents Phase 2
24 Anti-Asthmatic Agents Phase 2
25 Anesthetics, Local Phase 2
26 Cholinergic Agents Phase 2
27 Cholinergic Antagonists Phase 2
28 Fibrin fragment D Phase 2
29 Parasympatholytics Phase 2
30 Narcotics Phase 2
31 Vasoconstrictor Agents Phase 2
32 Muscarinic Antagonists Phase 2
33 Mydriatics Phase 2
34 Adrenergic Agents Phase 2
35 Analgesics, Opioid Phase 2
36 Sympathomimetics Phase 2
37 Neurotransmitter Agents Phase 2
38 Bronchodilator Agents Phase 2
39
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
40
Ranitidine Approved, Withdrawn 66357-59-3, 66357-35-5, 82530-72-1 3001055
41
tannic acid Approved 1401-55-4
42
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 5743
43
Metoclopramide Approved, Investigational 364-62-5 4168
44
Ondansetron Approved 99614-02-5 4595
45
Dexamethasone acetate Approved, Investigational, Vet_approved 1177-87-3
46
Tranexamic Acid Approved 1197-18-8 5526
47
Diazepam Approved, Illicit, Investigational, Vet_approved 439-14-5 3016
48
Isoflurane Approved, Vet_approved 26675-46-7 3763
49
Midazolam Approved, Illicit 59467-70-8 4192
50
Ibuprofen Approved 15687-27-1 3672

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Clinical, Pharmacological and Molecular Effects of Intravenous and Oral Acetaminophen in Adults With Aneurysmal Sub-Arachnoid Hemorrhage Terminated NCT02549716 Phase 4 IV acetaminophen;Oral acetaminophen;Oral placebo;IV placebo
2 Efficacy and Safety of Cyclophosphamide in the Treatment of Refractory Proliferative Arachnoiditis in Central Nervous System Tuberculosis- A Randomized Double Blinded Placebo Controlled Trial Not yet recruiting NCT04620772 Phase 2, Phase 3 Cyclophosphamide injection
3 Prospective Study of the Use of Thalidomide in Patients With Arachnoiditis Completed NCT00284505 Phase 2 thalidomide
4 The Effects of Colloid Pre-Loading on D-Dimer of the Mother and Her Baby During Cesarean Section Under Spinal Anesthesia for Mild Preeclampsia Completed NCT02622126 Phase 2 hydroxyethyl starch (6% 130/0.4);Hyperbaric bupivacaine;Morphine;Isotonic 0.9 sodium chloride (NaCl) solution;Ephedrine;Atropine
5 Targeting Carbonic Anhydrase Mediated Coupling as a Novel Vasospasm Prophylaxis in Aneurysmal Sub Arachnoid Hemorrhage Withdrawn NCT02165644 Phase 2 Acetazolamide;Nimodipine
6 Discovery of the Risk Factors Associated to the Development of Vasospasm Following a Sub-arachnoid Aneurismal Hemorrhage Via Genomic Studies Including Genetic and Transcriptomic Unknown status NCT01779713
7 Surgical Decompression/Untethering Combined With Weight Bearing Rehabilitation in Chronic Spinal Cord Injury Subjects Unknown status NCT02663310
8 A Non-Randomized, Non-Significant Risk Study Comparing the Nautilus NeuroWaveTM System to Transcranial Doppler as an Aid to Diagnosing Vasospasm Completed NCT01595802
9 A Randomised, Observer Blinded, Controlled Trial Of Femoral Nerve Block Versus Local Infiltration Analgesia for Post Operative Analgesia Following Total Knee Arthroplasty Completed NCT02288923 Pre-medication;Intra-operative medication;Post-operative analgesia - morphine;Post-operative analgesia - ibuprofen and paracetamol;Regular anti emetics
10 EDAS (Surgical) Revascularization for Symptomatic Intracranial Arterial Stenosis Completed NCT01819597
11 Injured Spinal Cord Pressure Evaluation Study - Transverse Myelitis Completed NCT03336762
12 KRANIOPHARYNGEOM Registry 2019 Multicenter Registry for Patients With Childhood-onset Craniopharyngioma, Xanthogranuloma, Cysts of Rathke's Pouch, Meningioma, Pituitary Adenoma, Arachnoid Cysts Recruiting NCT04158284
13 Comparison of the Effect of Rectus Sheath Block Versus Thoracic Epidural Analgesia on Diaphragmatic Function After Elective Abdominal Surgery With Midline Incision Recruiting NCT03725527
14 A Retrospective, Open-Label, Non-Randomized, Study Designed to Evaluate the Correlation of HS-1000 Device Capabilities in the Diagnosis and Assessment of Vasospasm Patients After Sub Arachnoid Hemorrhage Withdrawn NCT02093182
15 Spinal Cord Stimulation (SCS) Therapy Study Withdrawn NCT02371122

Search NIH Clinical Center for Arachnoiditis

Cochrane evidence based reviews: arachnoiditis

Genetic Tests for Arachnoiditis

Anatomical Context for Arachnoiditis

MalaCards organs/tissues related to Arachnoiditis:

40
Spinal Cord, Brain, Lung, Skin, Pituitary, Bone, Heart

Publications for Arachnoiditis

Articles related to Arachnoiditis:

(show top 50) (show all 1607)
# Title Authors PMID Year
1
The long-range prognosis of arachnoiditis. 20 61
2617363 1989
2
Arachnoiditis Ossificans of the Lumbar Spine: A Rare Cause of Progressive Cauda Equina Syndrome. 61
33508490 2021
3
[Arachnoiditis following spinal anesthesia-Case report and review of the literature]. 61
33721039 2021
4
Bacterial meningitis and COVID-19: a complex patient journey. 61
33674294 2021
5
Editorial for "MRI Findings of Arachnoiditis, Revisited. Is Classification Needed?" 61
33713514 2021
6
Thalidomide Use for Complicated Central Nervous System Tuberculosis in Children: Insights From an Observational Cohort. 61
33283220 2021
7
Transiting Nerve Rootlet Abnormalities on MRI after Lumbar Laminectomy: Associations with Persistent Postoperative Pain. 61
32901462 2021
8
Endoscopic Transfontanellar Approach of a Cyst Anterior to the Brainstem Crossing the Foramen Magnum-Part I: Failure of Unique Fenestration: 2-Dimensional Operative Video. 61
33223146 2021
9
Neurotuberculosis: an update. 61
33400226 2021
10
Spondylotic and Other Structural Myelopathies. 61
33522741 2021
11
Arachnoiditis, a complication of epidural blood patch for the treatment of low-pressure headache: A case report and systematic review. 61
33583044 2021
12
"Malignant" Craniospinal Neurocysticercosis: A Rare Case. 61
33127574 2021
13
MRI Findings of Arachnoiditis, Revisited. Is Classification Possible? 61
33644967 2021
14
Reintervention rate of arachnolysis versus shunting for nonforaminal syringomyelia. 61
33545681 2021
15
Spinal adhesive arachnoiditis: three case reports and review of literature. 61
32833147 2021
16
Spinal Syrinx Due to Lipiodol-Induced Arachnoiditis. 61
33601077 2021
17
Arachnoiditis and Chiari I malformation. 61
32948891 2021
18
Operative findings and outcome of microvascular decompression/adhesiolysis for trigeminal neuralgia in multiple sclerosis without demyelinating brain stem lesions. 61
33254046 2021
19
Preoperative Intracranial Dissemination of Spinal Myxopapillary Ependymoma Attributed to Tumor Hemorrhage. 61
32889190 2021
20
[Treatment of syringomyelia in patients with arachnopathy within craniovertebral junction]. 61
33560616 2021
21
The Pathogenesis of Neurotrauma Indicates Targets for Neuroprotective Therapies. 61
33550977 2021
22
Cerebral Vasculopathy and Spinal Arachnoiditis: Two Rare Complications of Ventriculitis Post Subarachnoid Hemorrhage. 61
33500861 2020
23
Hemifacial Spasm Secondary to Arachnoiditis Due to Neurocysticercosis: Clinical Image. 61
32645374 2020
24
Spinal arachnoiditis leading to recurrent reversible myelopathy: A case report. 61
33166210 2020
25
Complications associated with lumbar drain placement for endovascular aortic repair. 61
33053415 2020
26
Subarachnoid neurocysticercosis: emerging concepts and treatment. 61
32868512 2020
27
Coccidioidal meningitis in non-AIDS patients. A case series at a Mexican neurological referral center. 61
32593044 2020
28
Analysis of Tuberculosis Meningitis Pathogenesis, Diagnosis, and Treatment. 61
32937808 2020
29
Cauda equina arachnoiditis - a rare manifestation of West Nile virus neuroinvasive disease: A case report. 61
32953855 2020
30
Compressive myelopathy secondary to posthemorragic arachnoiditis: Case report and literature review. 61
32526489 2020
31
Spinal adhesive arachnoiditis mimicking sarcoid myelitis with nodular dural enhancement: A case report. 61
32535503 2020
32
Case Report: A Case of Severe Cryptococcal Immune Reconstitution Inflammatory Syndrome Presenting with Brain and Intradural Abscesses in an HIV Patient. 61
32342852 2020
33
Syringomyelia and hydromyelia: Current understanding and neurosurgical management. 61
32826067 2020
34
Dark as night: Spelunking for spinal solitary fibrous tumors/hemangiopericytomas in the differential of T2 hypointensity. 61
32507710 2020
35
Progressive quadriparesis and inflammation: A common disease, a rare presentation. 61
32825861 2020
36
Endoscopic Excision of Intraventricular Neurocysticercosis Cyst with an Angiocatheter: A Retrospective Analysis. 61
33145202 2020
37
Spinal Coccidioidomycosis: A Complication From Medication Noncompliance. 61
32832301 2020
38
Spinal arachnoiditis followed by intrathecal tigecycline therapy for central nervous system infection by extremely drug-resistant Acinetobacter baumannii. 61
32628870 2020
39
Recurrent arachnoid cysts secondary to spinal adhesive arachnoiditis successfully treated with a ventriculoperitoneal shunt. 61
32305826 2020
40
Lumbar arachnoiditis: Does imaging associate with clinical features? 61
32062307 2020
41
Syringomyelia as a delayed complication of lumbar-sacral adhesive arachnoiditis in Pott's disease. 61
32467119 2020
42
Syringomyelia in the Tethered Spinal Cords. 61
32336060 2020
43
Antisepsis for neuraxial procedures in Irish obstetric units and its possible impact on patient safety. A survey of national practice and associated complications. 61
31917052 2020
44
Optic nerve sheath diameter ultrasonography for elevated intracranial pressure detection. 61
32383326 2020
45
Ruptured dermoid cyst of the conus medullaris in the myelomeningocele sac revealed at the initial repair surgery. 61
31776717 2020
46
Successful Treatment of a Severe Vision-Threatening Paradoxical Tuberculous Reaction with Infliximab: First Pediatric Use. 61
31939874 2020
47
Polyclonal lymphocytic infiltrate with arachnoiditis resulting from intrathecal stem cell transplantation. 61
32013747 2020
48
Minimally invasive foramen magnum durectomy and obexostomy for treatment of craniocervical junction-related syringomyelia in adults: case series and midterm follow-up. 61
32302978 2020
49
Multiple Intracranial Tuberculomas with an Intra-medullary Spinal Cord Tuberculoma in a Pediatric Patient. 61
32292663 2020
50
Abnormalities in spinal cord ultrastructure in a rat model of post-traumatic syringomyelia. 61
32111246 2020

Variations for Arachnoiditis

Expression for Arachnoiditis

Search GEO for disease gene expression data for Arachnoiditis.

Pathways for Arachnoiditis

Pathways related to Arachnoiditis according to GeneCards Suite gene sharing:

(show all 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 UNC13D TNF POMC IL1B IL1A CRP
2
Show member pathways
12.49 TNF IL1B IL1A CD4
3
Show member pathways
12.43 TNF IL1B IL1A CD4
4
Show member pathways
12.41 TNF IL1B IL1A CD4
5
Show member pathways
12.05 TOP1 TNF IL1A
6 11.94 TNF IL1B IL1A
7 11.92 TNF IL1B CD4
8 11.74 TNF IL1B IL1A
9 11.7 TNF IL1B IL1A
10 11.7 TNF IL1B IL1A AQP4
11 11.63 TNF IL1B CD4
12 11.61 TNF POMC IL1B IL1A
13
Show member pathways
11.59 TNF IL1B CD4
14 11.58 TNF IL1B IL1A
15 11.56 TNF TAC1 IL1B IL1A AQP4
16 11.54 TNF IL1B CD4
17 11.45 TNF IL1B IL1A CD4
18
Show member pathways
11.43 TNF IL1B IL1A
19 11.3 TNF IL1B IL1A
20 11.23 TNF IL1B IL1A
21 11.09 TNF IL1B IL1A
22 10.97 TNF IL1B
23 10.9 TNF CRP
24 10.8 TNF IL1B
25 10.39 TNF IL1B IL1A CD4
26 10.32 IL1B IL1A

GO Terms for Arachnoiditis

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.32 UNC13D TNF TAC1 POMC IL1B IL1A

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of interleukin-6 production GO:0032755 9.69 TNF IL1B IL1A
2 inflammatory response GO:0006954 9.65 TNF TAC1 IL1B IL1A CRP
3 regulation of nitric-oxide synthase activity GO:0050999 9.58 IL1B IL1A
4 positive regulation of glial cell proliferation GO:0060252 9.58 TNF IL1B
5 negative regulation of lipid catabolic process GO:0050995 9.57 TNF IL1B
6 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.56 TNF IL1B
7 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.55 TNF IL1B
8 positive regulation of neuroinflammatory response GO:0150078 9.54 TNF IL1B
9 regulation of establishment of endothelial barrier GO:1903140 9.52 TNF IL1B
10 negative regulation of lipid storage GO:0010888 9.49 TNF CRP
11 vascular endothelial growth factor production GO:0010573 9.48 TNF IL1B
12 positive regulation of fever generation GO:0031622 9.46 TNF IL1B
13 positive regulation of immature T cell proliferation in thymus GO:0033092 9.43 IL1B IL1A
14 sequestering of triglyceride GO:0030730 9.4 TNF IL1B
15 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.37 TNF IL1B
16 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.33 TNF IL1B IL1A
17 fever generation GO:0001660 9.32 IL1B IL1A
18 positive regulation of interleukin-2 production GO:0032743 9.13 IL1B IL1A CD4
19 cytokine-mediated signaling pathway GO:0019221 9.02 TNF POMC IL1B IL1A CD4

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

# Name GO ID Score Top Affiliating Genes
1 interleukin-1 receptor binding GO:0005149 8.62 IL1B IL1A

Sources for Arachnoiditis

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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