TGCT
MCID: PGM001
MIFTS: 49

Pigmented Villonodular Synovitis (TGCT) malady

Categories: Rare diseases, Bone diseases, Reproductive diseases, Muscle diseases

Aliases & Classifications for Pigmented Villonodular Synovitis

Aliases & Descriptions for Pigmented Villonodular Synovitis:

Name: Pigmented Villonodular Synovitis 12 50 56 14 69
Localized Pigmented Villonodular Synovitis 50
Diffuse Giant Cell Tumor of Tenosynovium 12
Diffuse Pigmented Villonodular Synovitis 50
Fibrous Histiocytoma of Tendon Sheath 69
Synovitis, Pigmented Villonodular 42
Synovitis Pigmented Villonodular 52
Tenosynovial Giant Cell Tumors 50
Tenosynovial Giant Cell Tumor 56
Diffuse-Type Giant Cell Tumor 56
Testicular Germ Cell Tumor 69
Villous Tenosynovitis 12
Diffuse-Type Gct 56
Tsgct 56
Tgct 56

Characteristics:

Orphanet epidemiological data:

56
pigmented villonodular synovitis
Inheritance: Not applicable;

Classifications:



External Ids:

Disease Ontology 12 DOID:2702
ICD10 33 M12.2
MeSH 42 D013586
NCIt 47 C3401
Orphanet 56 ORPHA66627
MESH via Orphanet 43 D013586
UMLS via Orphanet 70 C0039106
ICD10 via Orphanet 34 M12.2
UMLS 69 C0039106

Summaries for Pigmented Villonodular Synovitis

NIH Rare Diseases : 50 pigmented villonodular synovitis (pvns) is a disease in which the tissue lining the joints and tendons in the body (synovium) grows abnormally. it is characterized by a noncancerous mass or tumor. there are two types of pvns: the local or nodular form (where the tumor involves the tendons that support the joint, or in one area of the joint) and the diffuse form (where the entire lining of the joint is involved). symptoms might include: pain, limitation of movement, and locking of the joint. in some cases, the normal joint structure can be destroyed. the knee is most commonly affected by this condition, though it can occur in other joints such as the hip, shoulder, elbow, ankle, wrist, and rarely the jaw. the average age of diagnosis for this condition is 35 years. the cause of pvns is unknown. treatment involves surgery to remove the tumor and damaged portions of the synovium. last updated: 4/4/2016

MalaCards based summary : Pigmented Villonodular Synovitis, also known as localized pigmented villonodular synovitis, is related to malignant giant cell tumor and testicular germ cell tumor, and has symptoms including pain An important gene associated with Pigmented Villonodular Synovitis is CSF1 (Colony Stimulating Factor 1), and among its related pathways/superpathways are Innate Immune System and PAK Pathway. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and hematopoietic system

Wikipedia : 71 Pigmented villonodular synovitis (PVNS) is a joint disease characterized by inflammation and overgrowth... more...

Related Diseases for Pigmented Villonodular Synovitis

Diseases related to Pigmented Villonodular Synovitis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 79)
id Related Disease Score Top Affiliating Genes
1 malignant giant cell tumor 28.5 ACP5 CALCR CSF1 CSF1R MMP9 PTPN11
2 testicular germ cell tumor 11.9
3 villonodular synovitis 11.9
4 noonan syndrome 1 11.8
5 synovitis 11.3
6 giant cell tumor 10.6
7 tenosynovial giant cell tumor 10.5
8 arthritis 10.3
9 rheumatoid arthritis 10.3
10 microcephaly 10, primary, autosomal recessive 10.2 ACP5 TNFSF11
11 maroteaux stanescu cousin syndrome 10.2 ACP5 TNFSF11
12 corneal staphyloma 10.2 ACP5 MMP9
13 bronchus cancer 10.2 ACP5 TNFSF11
14 plasma protein metabolism disease 10.2 CSF1 TNFSF11
15 cutis laxa 10.2 CSF1 CSF1R
16 tuberculosis 10.2
17 synovial chondromatosis 10.2
18 osteonecrosis 10.2
19 sarcoma 10.2
20 neuropathy 10.2
21 spastic hemiplegia 10.2 MMP9 TNFSF11
22 impotence 10.2 CSF1 TNFSF11
23 myofascial pain syndrome 10.1 ACP5 CALCR
24 acrorenal syndrome 10.1 ACP5 TNFSF11
25 adducted thumbs dundar type 10.1 CSF1 CSF1R
26 diplegia of upper limb 10.1 CSF1 CSF1R
27 bulbomembranous urethral cancer 10.1 ACP5 MMP9 TNFSF11
28 brain meningioma 10.1 MMP9 TP53
29 bladder papillary transitional cell neoplasm 10.1 ACP5 CSF1 TNFSF11
30 acantholytic squamous cell skin carcinoma 10.1 CSF1R TP53
31 wolf-hirschhorn syndrome 10.1 PTPN11 TNFSF11
32 hemarthrosis 10.1
33 chiasmal syndrome 10.1 ACP5 PTPRC
34 toxic megacolon 10.0 MMP9 TP53
35 keratoconus 10.0 CSF1 TNFSF11
36 monostotic fibrous dysplasia 10.0 CSF1 CSF1R
37 statin toxicity 10.0 MMP9 TNFSF11 TP53
38 plague 10.0 MMP9 TNFSF11 TP53
39 chromosomal disease 10.0 ACP5 TNFSF11
40 hypotrichosis 8 10.0 MMP9 TNFSF11 TP53
41 autistic disorder 10.0 ACP5 MMP9 TNFSF11
42 choriocarcinoma of ovary 9.9 PTPRC TP53
43 chediak-higashi syndrome 9.9
44 malignant giant cell tumor of the tendon sheath 9.9
45 noonan-like/multiple giant cell lesion syndrome 9.9
46 radiation induced cancer 9.9
47 lipoma 9.9
48 soft tissue sarcoma 9.9
49 spastic paraparesis 9.9
50 hemangioma 9.9

Graphical network of the top 20 diseases related to Pigmented Villonodular Synovitis:



Diseases related to Pigmented Villonodular Synovitis

Symptoms & Phenotypes for Pigmented Villonodular Synovitis

UMLS symptoms related to Pigmented Villonodular Synovitis:


pain

GenomeRNAi Phenotypes related to Pigmented Villonodular Synovitis according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.68 PTPRC
2 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.68 PTPN11
3 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.68 PTPN11 PTPRC CALCR
4 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.68 PTPN11
5 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.68 CALCR
6 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.68 PTPN11 PTPRC
7 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.68 PTPN11
8 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.68 PTPN11
9 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.68 CALCR
10 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.68 PTPRC
11 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.68 PTPRC
12 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.68 CALCR
13 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.68 PTPN11
14 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.68 PTPRC
15 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.68 PTPN11
16 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.68 PTPRC
17 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.68 PTPN11
18 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.68 PTPN11
19 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.68 CALCR
20 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.68 CALCR
21 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.26 ACP5 CSF1R PTPN11 PTPRC

MGI Mouse Phenotypes related to Pigmented Villonodular Synovitis:

44 (show all 18)
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.14 CALCR CSF1 CSF1R MMP9 PTPN11 PTPRC
2 homeostasis/metabolism MP:0005376 10.13 CSF1R MMP9 PTPN11 PTPRC TNFSF11 TP53
3 immune system MP:0005387 10.11 CALCR CSF1 CSF1R MMP9 PTPN11 PTPRC
4 growth/size/body region MP:0005378 10.1 CSF1 CSF1R MMP9 PTPN11 PTPRC TNFSF11
5 mortality/aging MP:0010768 10.06 CALCR CSF1 CSF1R MMP9 PTPN11 PTPRC
6 endocrine/exocrine gland MP:0005379 10.04 CSF1 CSF1R PTPN11 PTPRC TNFSF11 TP53
7 limbs/digits/tail MP:0005371 10.02 CALCR CSF1 CSF1R MMP9 PTPN11 TNFSF11
8 craniofacial MP:0005382 9.97 CSF1 CSF1R PTPN11 TNFSF11 TP53
9 integument MP:0010771 9.97 CSF1 CSF1R MMP9 PTPN11 TNFSF11 TP53
10 hearing/vestibular/ear MP:0005377 9.85 CSF1 CSF1R PTPN11 TP53
11 no phenotypic analysis MP:0003012 9.85 TNFSF11 TP53 CSF1 CSF1R PTPN11 PTPRC
12 muscle MP:0005369 9.83 CSF1 MMP9 PTPN11 TNFSF11 TP53
13 neoplasm MP:0002006 9.8 MMP9 PTPN11 PTPRC TNFSF11 TP53
14 normal MP:0002873 9.8 PTPRC TNFSF11 TP53 CALCR CSF1R PTPN11
15 reproductive system MP:0005389 9.73 CSF1 CSF1R MMP9 PTPN11 TNFSF11 TP53
16 respiratory system MP:0005388 9.63 CSF1 MMP9 PTPN11 PTPRC TNFSF11 TP53
17 skeleton MP:0005390 9.56 CALCR CSF1 CSF1R MMP9 PTPN11 PTPRC
18 vision/eye MP:0005391 9.02 CSF1 MMP9 PTPN11 TNFSF11 TP53

Drugs & Therapeutics for Pigmented Villonodular Synovitis

Drugs for Pigmented Villonodular Synovitis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins Phase 1, Phase 2
2 Antibodies Phase 1, Phase 2
3 Grapefruit Seed Extract Nutraceutical Phase 2
4
Paclitaxel Approved, Vet_approved Phase 1 33069-62-4 36314
5 Albumin-Bound Paclitaxel Phase 1
6 Antimitotic Agents Phase 1
7 Antineoplastic Agents, Phytogenic Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 PLX3397 Phase 3 Study for Pigmented Villonodular Synovitis (PVNS) or Giant Cell Tumor of the Tendon Sheath (GCT-TS) Active, not recruiting NCT02371369 Phase 3
2 Study of Nilotinib Efficacy in Pigmented Villo-Nodular Synovitis/ Tenosynovial Giant Cell Tumour (PVNS/TGCT) Completed NCT01261429 Phase 2
3 MCS110 in Patients With Pigmented Villonodular Synovitis (PVNS) or Giant Cell Tumor of the Tendon Sheath (GCTTS) Recruiting NCT01643850 Phase 2
4 Study of FPA008 in Patients With Pigmented Villonodular Synovitis / Diffuse Type Tenosynovial Giant Cell Tumor Recruiting NCT02471716 Phase 1, Phase 2
5 Nilotinib in Patients With Relapsed or Metastatic Pigmented Villonodular Synovitis/Tenosynovial Giant Cell Tumor/Diffuse-Type Giant Cell Tumor Active, not recruiting NCT01207492 Phase 2
6 A Study of PLX73086 in Advanced Solid Tumors and Locally Advanced or Refractory Tenosynovial Giant Cell Tumor Recruiting NCT02673736 Phase 1
7 Phase 1 Study of PLX7486 as Single Agent in Patients With Advanced Solid Tumors Recruiting NCT01804530 Phase 1
8 A Study of RO5509554 as Monotherapy and in Combination With Paclitaxel in Participants With Advanced Solid Tumors Active, not recruiting NCT01494688 Phase 1
9 Tenosynovial Giant Cell Tumors (TGCT) Observational Platform Project Recruiting NCT02948088

Search NIH Clinical Center for Pigmented Villonodular Synovitis

Cochrane evidence based reviews: synovitis, pigmented villonodular

Genetic Tests for Pigmented Villonodular Synovitis

Anatomical Context for Pigmented Villonodular Synovitis

MalaCards organs/tissues related to Pigmented Villonodular Synovitis:

39
Bone, Lung, Testes

Publications for Pigmented Villonodular Synovitis

Articles related to Pigmented Villonodular Synovitis:

(show top 50) (show all 570)
id Title Authors Year
1
Localized and diffuse forms of tenosynovial giant cell tumor (formerly giant cell tumor of the tendon sheath and pigmented villonodular synovitis). ( 28057477 )
2017
2
Osteonecrosis of the femoral head associated with pigmented villonodular synovitis. ( 27928593 )
2016
3
Pigmented villonodular synovitis of the knee joint in a 5-year-old girl treated with combined open and arthroscopic surgery: a case report. ( 26919624 )
2016
4
Pigmented villonodular synovitis: a crowdsourcing study of two hundred and seventy two patients. ( 27169531 )
2016
5
Pigmented villonodular synovitis of proximal tibiofibular joint: Rare site of involvement treated with medical management. ( 28032093 )
2016
6
Locked hip joint: an uncommon presentation of localized pigmented villonodular synovitis. ( 27130398 )
2016
7
Organ-specific radiation-induced cancer risk estimates due to radiotherapy for benign pigmented villonodular synovitis. ( 27499236 )
2016
8
Pigmented Villonodular Synovitis of the Knee Joint: A Case Report. ( 27843734 )
2016
9
Arthroscopic surgical treatment of pigmented villonodular synovitis of the elbow: case report. ( 27517031 )
2016
10
Tumorlike Pigmented Villonodular Synovitis With Atypical Location: Appearance on 3-Phase 99mTc-MDP Bone Scan. ( 28005642 )
2016
11
Current Systemic Treatment Options for Tenosynovial Giant Cell Tumor/Pigmented Villonodular Synovitis: Targeting the CSF1/CSF1R Axis. ( 26820289 )
2016
12
Pigmented villonodular synovitis mimics metastases on fluorine 18 fluorodeoxyglucose position emission tomography-computed tomography. ( 27190776 )
2016
13
Pigmented villonodular synovitis diagnosed during revision total knee arthroplasty for flexion instability and patellar fracture. ( 26810732 )
2016
14
Pigmented Villonodular Synovitis: A Comprehensive Review and Proposed Treatment Algorithm. ( 27509331 )
2016
15
Pigmented Villonodular Synovitis of the Hip: A Systematic Review. ( 26761914 )
2016
16
Multifocal pigmented villonodular synovitis in a child: A case report. ( 27537585 )
2016
17
A systematic literature review of synovial chondromatosis and pigmented villonodular synovitis of the hip. ( 27462929 )
2016
18
Arthroscopically-assisted mini open partial synovectomy for the treatment of localized pigmented villonodular synovitis of the knee. A retrospective comparative study with long-term follow up. ( 27866235 )
2016
19
Pigmented Villonodular Synovitis of the Temporomandibular Joint: A Unique Presentation. ( 27200236 )
2016
20
Case report of pigmented villonodular synovitis arising from the calcaneocuboid joint in a 12 year old male. ( 25510167 )
2015
21
Tenosynovial giant cell tumour/pigmented villonodular synovitis: outcome of 294 patients before the era of kinase inhibitors. ( 25465190 )
2015
22
Acute Knee Pain in a Child Due to Pigmented Villonodular Synovitis. ( 27299078 )
2015
23
A severe systemic presentation of pigmented villonodular synovitis in a child with underlying Chediak-Higashi syndrome. ( 25967956 )
2015
24
Pigmented Villonodular Synovitis Presenting as a Popliteal Cyst. ( 27299073 )
2015
25
Use of yttrium-90 hydroxyapatite radiosynovectomy as a primary modality of treatment in diffuse pigmented villonodular synovitis of the knee joint: A first case report. ( 25589806 )
2015
26
Arthroscopic Synovectomy and Postoperative Assisted Radiotherapy for Treating Diffuse Pigmented Villonodular Synovitis of the Knee: An observational retrospective study. ( 26430437 )
2015
27
Pigmented Villonodular Synovitis: Potential Pitfall on Oncologic 18F-FDG PET/CT. ( 26164181 )
2015
28
Computed Tomography and Magnetic Resonance Manifestations of Spinal Pigmented Villonodular Synovitis. ( 25836023 )
2015
29
Tenosynovial Giant Cell Tumor, Diffuse Type/Pigmented Villonodular Synovitis in a Pars Defect: A Case Report. ( 26067150 )
2015
30
Arthroscopic T-capsulotomy for Excision of Pigmented Villonodular Synovitis in the Hip. ( 25901612 )
2015
31
Recurrent pigmented villonodular synovitis and multifocal giant cell tumor of the tendon sheath: case report. ( 25577961 )
2015
32
Surgical outcomes after excision of pigmented villonodular synovitis localized to the ankle and hindfoot without adjuvant therapy. ( 25618808 )
2015
33
Intra-Articular Synovial Sarcomas: Incidence and Differentiating Features from Localized Pigmented Villonodular Synovitis. ( 26819567 )
2015
34
Tenosynovial giant cell tumour (pigmented villonodular synovitis-)-like changes in periprosthetic interface membranes. ( 26553457 )
2015
35
Intra-articular post-traumatic ankle joint mass imitating localized pigmented villonodular synovitis (LPVS), the aid of ankle arthroscopy for diagnosis and treatment-A case report. ( 25637030 )
2015
36
Expression of colony-stimulating factor 1 is associated with occurrence of osteochondral change in pigmented villonodular synovitis. ( 25854167 )
2015
37
Surgical treatment of diffuse pigmented villonodular synovitis of the knee. ( 25936715 )
2015
38
Primary synovial epithelioid sarcoma of the knee: distinctly unusual location leading to its confusion with pigmented villonodular synovitis. ( 25801084 )
2015
39
MRI and thallium features of pigmented villonodular synovitis and giant cell tumours of tendon sheaths: a retrospective single centre study of imaging and literature review. ( 26440548 )
2015
40
Pigmented villonodular synovitis of temporomandibular joint: pathological aspects and surgical treatment. ( 25937582 )
2015
41
Postoperative radiotherapy for diffuse pigmented villonodular synovitis of the temporomandibular joint. ( 25459320 )
2015
42
The effect of surgical synovectomy and radiotherapy on the rate of recurrence of pigmented villonodular synovitis of the knee: an individual patient meta-analysis. ( 25820897 )
2015
43
Dual-energy computed tomography molecular imaging of pigmented villonodular synovitis. ( 25504960 )
2015
44
Pigmented Villonodular Synovitis: a recurrent case with atypical location and extra-articular extension. ( 26219971 )
2015
45
Bilateral pigmented villonodular synovitis of the knee. ( 26649121 )
2015
46
Pigmented villonodular synovitis of the temporomandibular joint: Case report and review of literature. ( 25821131 )
2015
47
Metastasizing tenosynovial giant cell tumour, diffuse type/pigmented villonodular synovitis. ( 26052431 )
2015
48
Pigmented villonodular synovitis of the temporomandibular joint with intracranial extension. ( 25699525 )
2015
49
Multi-lineage differentiation and angiogenesis potentials of pigmented villonodular synovitis derived mesenchymal stem cells - pathological implication. ( 26291329 )
2015
50
Pigmented villonodular synovitis: a retrospective multicenter study of 237 cases. ( 25799575 )
2015

Variations for Pigmented Villonodular Synovitis

Expression for Pigmented Villonodular Synovitis

Search GEO for disease gene expression data for Pigmented Villonodular Synovitis.

Pathways for Pigmented Villonodular Synovitis

Pathways related to Pigmented Villonodular Synovitis according to GeneCards Suite gene sharing:

(show all 22)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.7 CSF1 CSF1R MMP9 PTPN11 PTPRC TNFSF11
2
Show member pathways
12.94 CSF1 CSF1R PTPN11 PTPRC TNFSF11
3
Show member pathways
12.84 CSF1 CSF1R MMP9 PTPN11 TNFSF11 TP53
4
Show member pathways
12.08 ACP5 CALCR TNFSF11
5 12.01 MMP9 PTPN11 TP53
6
Show member pathways
11.98 PTPN11 TNFSF11 TP53
7 11.93 CSF1R MMP9 TP53
8 11.56 ACP5 CSF1 TNFSF11
9 11.52 CSF1R PTPN11 PTPRC
10 11.43 MMP9 PTPN11 PTPRC
11 11.38 CSF1 CSF1R PTPRC
12 11.31 PTPN11 TP53
13 11.3 CSF1 CSF1R
14 11.26 MMP9 PTPN11
15 11.24 CALCR TNFSF11
16
Show member pathways
11.2 CSF1 CSF1R
17 11.18 PTPN11 PTPRC
18 11.13 ACP5 CALCR CSF1 CSF1R TNFSF11
19 11.08 MMP9 PTPRC
20 11.01 CSF1 CSF1R TNFSF11
21 10.79 CSF1 CSF1R PTPN11
22 10.66 ACP5 TNFSF11

GO Terms for Pigmented Villonodular Synovitis

Cellular components related to Pigmented Villonodular Synovitis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 CSF1-CSF1R complex GO:1990682 8.62 CSF1 CSF1R

Biological processes related to Pigmented Villonodular Synovitis according to GeneCards Suite gene sharing:

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell migration GO:0030335 9.63 CSF1 CSF1R MMP9
2 dephosphorylation GO:0016311 9.58 ACP5 PTPN11 PTPRC
3 response to gamma radiation GO:0010332 9.51 PTPRC TP53
4 phosphatidylinositol-mediated signaling GO:0048015 9.5 CSF1R PTPN11 TP53
5 homeostasis of number of cells within a tissue GO:0048873 9.49 CSF1 PTPN11
6 positive regulation of release of cytochrome c from mitochondria GO:0090200 9.48 MMP9 TP53
7 bone resorption GO:0045453 9.43 ACP5 TNFSF11
8 positive regulation of osteoclast differentiation GO:0045672 9.37 CSF1 TNFSF11
9 macrophage colony-stimulating factor signaling pathway GO:0038145 9.26 CSF1 CSF1R
10 osteoclast proliferation GO:0002158 9.16 CSF1 TNFSF11
11 macrophage differentiation GO:0030225 9.13 CSF1 CSF1R MMP9
12 osteoclast differentiation GO:0030316 8.92 CALCR CSF1 CSF1R TNFSF11

Molecular functions related to Pigmented Villonodular Synovitis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 receptor tyrosine kinase binding GO:0030971 8.62 PTPN11 TP53

Sources for Pigmented Villonodular Synovitis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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