Aliases & Classifications for Fibromatosis

MalaCards integrated aliases for Fibromatosis:

Name: Fibromatosis 49 51 69

Classifications:



External Ids:

UMLS 69 C0016048

Summaries for Fibromatosis

NIH Rare Diseases : 49 Fibromatosis refers to a group of conditions characterized by overgrowths of skin and connective tissue called fibromas. These fibromas are usually benign (non-cancerous). Fibromatosis can be classified by a person's age or by the location of the fibromas. The cause of fibromatosis is often unknown, and treatment depends on the individual disease. Last updated: 5/10/2010

MalaCards based summary : Fibromatosis is related to infantile digital fibromatosis and desmoid disease, hereditary. An important gene associated with Fibromatosis is ANTXR2 (Anthrax Toxin Receptor 2), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and PI3K-Akt signaling pathway. The drugs Sorafenib and Folic Acid have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and breast, and related phenotypes are cardiovascular system and cellular

Wikipedia : 72 The term fibromatosis refers to a group of soft tissue tumors which have certain characteristics in... more...

Related Diseases for Fibromatosis

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

(show top 50) (show all 244)
# Related Disease Score Top Affiliating Genes
1 infantile digital fibromatosis 33.5 DES VIM
2 desmoid disease, hereditary 33.3 APC CTNNB1
3 desmoid tumor 32.5 APC CTNNB1 KIT
4 pseudosarcomatous fibromatosis 32.3 ACTC1 CTNNB1 DES VIM
5 infantile myofibromatosis 31.2 ACTC1 DES VIM
6 familial adenomatous polyposis 1 30.2 APC CTNNB1
7 benign breast phyllodes tumor 29.8 KIT VIM
8 gingival hypertrophy 29.7 ANTXR2 VIM
9 fibroblastic rheumatism 29.5 ACTC1 DES
10 fasciitis 29.3 ACTC1 DES VIM
11 spindle cell carcinoma 29.2 ACTC1 DES VIM
12 non-langerhans-cell histiocytosis 29.1 ACTC1 DES
13 dendritic cell tumor 29.0 ACTC1 VIM
14 gastrointestinal stromal tumor 28.8 ACTC1 DES KIT VIM
15 glomus tumor 28.6 ACTC1 DES VIM
16 fibrous histiocytoma 28.6 ACTC1 DES VIM
17 inflammatory myofibroblastic tumor 28.0 ACTC1 DES KIT VIM
18 fibromatosis, gingival, 1 12.4
19 hyaline fibromatosis syndrome 12.4
20 fibromatosis, gingival, 2 12.3
21 fibromatosis, gingival, with progressive deafness 12.3
22 fibromatosis, gingival, 4 12.2
23 fibromatosis, gingival, 5 12.2
24 gingival fibromatosis 12.2
25 fibromatosis, gingival, 3 12.1
26 plantar fascial fibromatosis 12.0
27 fibromatosis, gingival, with distinctive facies 12.0
28 hypertrichosis, congenital generalized, with or without gingival hyperplasia 12.0
29 zimmermann-laband syndrome 1 11.9
30 ledderhose disease 11.9
31 myofibromatosis, infantile, 1 11.9
32 fibromatosis, gingival, with hypertrichosis and mental retardation 11.8
33 fibromatosis multiple non ossifying 11.8
34 dupuytren contracture 11.8
35 ramon syndrome 11.4
36 peritonitis 11.3
37 amelogenesis imperfecta, type ig 11.2
38 zimmermann-laband syndrome 11.1
39 rutherfurd syndrome 10.8
40 oculocerebral syndrome with hypopigmentation 10.8
41 zimmermann-laband syndrome 2 10.8
42 peyronie's disease 10.8
43 hyalinosis, inherited systemic 10.8
44 congenital torticollis 10.8
45 calcifying aponeurotic fibroma 10.8
46 gingivitis 10.6
47 hepatic adenomas, familial 10.4 APC CTNNB1
48 wilms tumor 6 10.3 CTNNB1 REST
49 gingival disease 10.3 ANTXR2 SOS1
50 conventional fibrosarcoma 10.2 CTNNB1 KIT

Graphical network of the top 20 diseases related to Fibromatosis:



Diseases related to Fibromatosis

Symptoms & Phenotypes for Fibromatosis

MGI Mouse Phenotypes related to Fibromatosis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.09 CTNNB1 VIM DES ACTC1 KIT ANTXR2
2 cellular MP:0005384 10.06 SOS1 CTNNB1 VIM DES ACTC1 KIT
3 mortality/aging MP:0010768 9.97 SOS1 CTNNB1 VIM DES ACTC1 KIT
4 embryo MP:0005380 9.85 SOS1 CTNNB1 VIM KIT REST APC
5 muscle MP:0005369 9.8 SOS1 CTNNB1 VIM DES ACTC1 KIT
6 no phenotypic analysis MP:0003012 9.55 APC SOS1 CTNNB1 KIT ANTXR2
7 reproductive system MP:0005389 9.43 APC CTNNB1 KIT ANTXR2 REST VIM
8 vision/eye MP:0005391 9.1 SOS1 CTNNB1 VIM KIT REST APC

Drugs & Therapeutics for Fibromatosis

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

(show top 50) (show all 80)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sorafenib Approved, Investigational Phase 3 284461-73-0 216239 406563
2
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-30-3 6037
3
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
4
Nicotinamide Approved, Investigational, Nutraceutical Phase 3 98-92-0 936
5 Vitamin B Complex Phase 3,Phase 2
6 Protein Kinase Inhibitors Phase 3,Phase 1,Phase 2
7 Micronutrients Phase 3
8 Trace Elements Phase 3
9 Nicotinic Acids Phase 3
10 Vitamins Phase 3
11 Folate Nutraceutical Phase 3,Phase 2
12 Vitamin B9 Nutraceutical Phase 3,Phase 2
13 Vitamin B3 Nutraceutical Phase 3
14
Toremifene Approved, Investigational Phase 2 89778-26-7 3005573
15
Vinblastine Approved Phase 2 865-21-4 241903 13342
16
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
17
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
18
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
19
Aminolevulinic acid Approved Phase 2 106-60-5 137
20
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
21
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
22
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 46835353 6436030 5284616
23
nivolumab Approved Phase 2 946414-94-4
24
Tamoxifen Approved Phase 2,Phase 1 10540-29-1 2733526
25
Sulindac Approved, Investigational Phase 2 38194-50-2 1548887 5352
26
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
27
Citric Acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
28 Selective Estrogen Receptor Modulators Phase 2,Phase 1
29 Hormone Antagonists Phase 2,Phase 1
30 Hormones Phase 2,Phase 1
31 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
32 Estrogen Receptor Modulators Phase 2,Phase 1
33 Estrogens Phase 2,Phase 1
34 Antineoplastic Agents, Hormonal Phase 2,Phase 1
35 Bone Density Conservation Agents Phase 2,Phase 1
36 Folic Acid Antagonists Phase 2
37 Nucleic Acid Synthesis Inhibitors Phase 2
38 Dermatologic Agents Phase 2
39 Angiogenesis Inhibitors Phase 2
40 Angiogenesis Modulating Agents Phase 2
41 Imatinib Mesylate Phase 1, Phase 2 123596
42 Immunosuppressive Agents Phase 2,Phase 1
43 Antimetabolites Phase 2
44 Antimetabolites, Antineoplastic Phase 2
45 Antimitotic Agents Phase 2
46 Antineoplastic Agents, Phytogenic Phase 2
47 Antirheumatic Agents Phase 2
48 Calcium, Dietary Phase 2
49 Albumin-Bound Paclitaxel Phase 2
50 Anesthetics Phase 2

Interventional clinical trials:

(show all 38)

# Name Status NCT ID Phase Drugs
1 Prospective Trial Comparing the Performance Profiles of Two Non-Cross-Linked Porcine Dermal Matrices in Abdominal Wall Reconstruction Recruiting NCT02228889 Phase 4
2 Sorafenib Tosylate in Treating Patients With Desmoid Tumors or Aggressive Fibromatosis Active, not recruiting NCT02066181 Phase 3 Sorafenib Tosylate
3 Toremifene in Desmoid Tumor: Prospective Clinical Trial and Identification of Potential Molecular Targets Unknown status NCT02353429 Phase 2 Toremifene
4 Dupuytren's Disease and Extracorporeal Shockwave Therapy (DupuyShock-2010) Unknown status NCT01184586 Phase 2
5 Imatinib Mesylate in Treating Patients With Recurrent or Refractory Fibromatosis Completed NCT00287846 Phase 1, Phase 2 imatinib mesylate
6 Radiation Therapy in Treating Patients With Aggressive Fibromatoses Completed NCT00030680 Phase 2
7 Study to Evaluate Imatinib in Desmoid Tumors Completed NCT01137916 Phase 2 Imatinib
8 Vinblastine and Methotrexate in Treating Children With Desmoid Tumors Completed NCT00003019 Phase 2 methotrexate;vinblastine sulfate
9 Toremifene in Treating Patients With Desmoid Tumors Completed NCT00002595 Phase 2 toremifene
10 Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases Completed NCT00154388 Phase 2 Imatinib mesylate
11 Sunitinib in Treating Patients With Metastatic, Locally Advanced, or Locally Recurrent Sarcomas Completed NCT00474994 Phase 2 sunitinib malate
12 A Pilot Study Evaluating the Use of mTor Inhibitor Sirolimus in Children and Young Adults With Desmoid-Type Fibromatosis Recruiting NCT01265030 Phase 1, Phase 2 Sirolimus
13 Safety and Efficacy Study Using 5-ALA Oral Administration as an Adjuvant Therapy on the Rate of Local Tumor Recurrence in Patients Who Have Desmoids Tumors Recruiting NCT01898416 Phase 2 5-AMINOLEVULINIC ACID (5-ALA), is a non fluorescent prodrug.
14 PAZOPANIB Efficacy and Tolerance in Desmoids Tumors Recruiting NCT01876082 Phase 2 PAZOPANIB treatment;Active Comparator: Vinblastine and Methotrexate
15 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
16 Trial of Nab-paclitaxel in Patients With Desmoid Tumors and Multiply Relapsed/Refractory Desmoplastic Small Round Cell Tumors and Ewing Sarcoma Recruiting NCT03275818 Phase 2 nab paclitaxel
17 Study of CB-103 in Adult Patients With Advanced or Metastatic Solid Tumours and Haematological Malignancies Recruiting NCT03422679 Phase 1, Phase 2 CB-103
18 Phase II Trial of the Gamma-Secretase Inhibitor PF-03084014 in Adults With Desmoid Tumors/Aggressive Fibromatosis Active, not recruiting NCT01981551 Phase 2 PF-03084014
19 A Trial of Imatinib for Patients With Aggressive Desmoid Tumor (Aggressive Fibromatosis) Active, not recruiting NCT02495519 Phase 2 Imatinib
20 Sulindac and Tamoxifen in Treating Patients With Desmoid Tumor Active, not recruiting NCT00068419 Phase 2 tamoxifen citrate;sulindac
21 Imatinib in Patients With Desmoid Tumor and Chondrosarcoma Active, not recruiting NCT00928525 Phase 2 Imatinib Mesylate
22 Effect of Hydroxyurea as Treatment for Primary Desmoid Tumors Withdrawn NCT00978146 Phase 2 Hydroxyurea
23 MR-guided High Intensity Focused Ultrasound (HIFU) on Pediatric Solid Tumors Recruiting NCT02076906 Phase 1
24 Endoxifen in Adults With Hormone Receptor Positive Solid Tumors Active, not recruiting NCT01273168 Phase 1 Z-Endoxifen
25 Tailored Beta-catenin Mutational Approach in Extra-abdominal Sporadic Desmoids Tumor Patients Unknown status NCT02547831
26 Knee Stiffness in Fibrosis Diathesis Unknown status NCT02294890
27 Genes Associated With Hereditary and Drug-Induced Gingival Overgrowth Completed NCT00104026
28 Evaluation of the Cryodestruction of Non Abdominopelvic Desmoid Tumors in Patients Progressing Despite Medical Treatment Completed NCT02476305
29 A Cohort Study of Patients Treated With Brachytherapy for Selected Desmoid Patients in Gardner Syndrome Completed NCT01286662
30 Studying Genes in Tissue Samples From Younger and Adolescent Patients With Soft Tissue Sarcomas Completed NCT01567046
31 BioHFS - Biomarker for Hyaline Fibromatosis Syndrome Recruiting NCT03196115
32 National Clinical-biological Prospective Cohort of Incident Cases of Aggressive Fibromatosis (ALTITUDES) Recruiting NCT02867033
33 Peripheral Primitive Fibromatosis Recruiting NCT01801176
34 Optional Sub-study to Intraoperative Imaging With ICG Registry Recruiting NCT02651246
35 18F-FES PET/CT in Imaging Patients With Desmoid Tumors Active, not recruiting NCT02374931
36 Natural Disease Progress of Dupuytren Disease Active, not recruiting NCT01923103
37 Collecting and Storing Tissue, Blood, and Bone Marrow Samples From Patients With Rhabdomyosarcoma or Other Soft Tissue Sarcoma Active, not recruiting NCT00919269
38 Compassionate Use Protocol for PF-03084014 in Patients With Advanced Solid Tumor Malignancies No longer available NCT02955446 PF-03084014

Search NIH Clinical Center for Fibromatosis

Genetic Tests for Fibromatosis

Anatomical Context for Fibromatosis

MalaCards organs/tissues related to Fibromatosis:

38
Skin, Bone, Breast, Bone Marrow, Colon, Tongue, Lung

Publications for Fibromatosis

Articles related to Fibromatosis:

(show top 50) (show all 868)
# Title Authors Year
1
Mesenteric fibromatosis: a rare cause of peritonitis. ( 29424348 )
2018
2
Systemic therapy of aggressive fibromatosis in children and adolescents: Report of the Cooperative Weichteilsarkom Studiengruppe (CWS). ( 29316163 )
2018
3
Expression of CD163 in hereditary gingival fibromatosis: A possible association with TGF-I^1. ( 29325232 )
2018
4
Infantile digital fibromatosis-like tumor of adult. ( 29319280 )
2018
5
Plantar Fibromatosis: Pathophysiology, Surgical and Nonsurgical Therapies: An Evidence-Based Review. ( 29310463 )
2018
6
Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis): whole-body MR findings in two siblings with different subcutaneous nodules distribution. ( 29058046 )
2018
7
Gene expression profiling and bioinformatics analysis of hereditary gingival fibromatosis. ( 29435271 )
2018
8
Phase II study of doxorubicin and thalidomide in patients with refractory aggressive fibromatosis. ( 29170886 )
2018
9
Sternocleidomastoid tumour in neonate:<i>fibromatosis colli</i>. ( 29326344 )
2018
10
Plantar fibromatosis: Surgical approach of a giant bilateral case. ( 29265359 )
2018
11
APC mosaicism in a young woman with desmoid type fibromatosis and familial adenomatous polyposis. ( 29368261 )
2018
12
Plantar Fascial Fibromatosis: Two Cases Treated With Low-Energy Focused Shock Waves. ( 28002162 )
2017
13
Desmoid-type fibromatosis of the breast: A report of 2 cases. ( 28789360 )
2017
14
Gingival fibromatosis with hypertrichosis syndrome: Case series of rare syndrome. ( 28836540 )
2017
15
Local recurrence of sporadic mesenteric fibromatosis following radical surgery attacking the proximal jejunum. ( 29123587 )
2017
16
Plantar Fibromatosis in a Mentally Challenged Man Treated with Intralesional Corticosteroids. ( 29282193 )
2017
17
Long-Term Follow-Up of Desmoid Fibromatosis Treated with PF-03084014, an Oral Gamma Secretase Inhibitor. ( 28887726 )
2017
18
CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome. ( 28604699 )
2017
19
Multiple Recurrent Fibromatosis With Cranial Fasciitis Characteristics in a Pediatric Patient. ( 28885439 )
2017
20
Radiologic images of an aggressive implant-associated fibromatosis of the breast and chest wall: case report and review of the literature. ( 28828097 )
2017
21
Effect of surgical margins on prognosis in aggressive fibromatosis: A single-institutional analysis of 90 patients. ( 29113152 )
2017
22
Hereditary gingival fibromatosis: Characteristics and treatment approach. ( 28469831 )
2017
23
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. ( 28686854 )
2017
24
Surgical versus non-surgical approach in primary desmoid-type fibromatosis patients: A nationwide prospective cohort from the French Sarcoma Group. ( 28735069 )
2017
25
Papillary thyroid carcinoma with desmoid-type fibromatosis: A clinical, pathological, and immunohistochemical study of 14 cases. ( 28794344 )
2017
26
The Effect of MMP-13, MMP-12, and AMBN on Gingival Enlargement and Root Deformation In a New Type of Gingival Fibromatosis. ( 28937892 )
2017
27
Multivisceral transplant is a viable treatment option for patients with non-resectable intra-abdominal fibromatosis. ( 29288580 )
2017
28
Squamous cell carcinoma arising in familial gingival fibromatosis-a rare case report. ( 29026519 )
2017
29
Effective Treatment of Aggressive Fibromatosis with Celecoxib Guided by Genetic testing. ( 28881160 )
2017
30
Analysis of mutations in the SOS-1 gene in two Polish families with hereditary gingival fibromatosis. ( 28425619 )
2017
31
Biology and Treatment of Aggressive Fibromatosis or Desmoid Tumor. ( 28578783 )
2017
32
Unusual presentation of familial gingival fibromatosis among male siblings. ( 29398861 )
2017
33
Duodenum-derived fibromatosis that invaded the muscular layer of intestinal wall: A rare case report. ( 28767596 )
2017
34
Juvenile Hyaline Fibromatosis- A Rare Autosomal Recessive Disease. ( 28892992 )
2017
35
Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome. ( 28103792 )
2017
36
Tumor reduction and symptom relief after electrochemotherapy in a patient with aggressive fibromatosis - a case report. ( 28812409 )
2017
37
Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis. ( 29097701 )
2017
38
Aggressive fibromatosis of the oral cavity in a 5 year old boy: a rare case report. ( 28819469 )
2017
39
I^-Catenin in desmoid-type fibromatosis: deep insights into the role of T41A and S45F mutations on protein structure and gene expression. ( 28627792 )
2017
40
FSpontaneous isolated mesenteric fibromatosis associated with small bowel obstruction. ( 29364105 )
2017
41
Breast fibromatosis, an unusual breast disease. ( 29302307 )
2017
42
Mesenteric fibromatosis after resection for gastrointestinal stromal tumor of stomach: A case report. ( 29310354 )
2017
43
Immunohistochemical staining with non-phospho I^-catenin as a diagnostic and prognostic tool of COX-2 inhibitor therapy for patients with extra-peritoneal desmoid-type fibromatosis. ( 28851389 )
2017
44
The black garland sign in ovarian fibromatosis. ( 29143075 )
2017
45
Fibromatosis of the Breast: Diagnostic Accuracy of Core Needle Biopsy. ( 28821190 )
2017
46
A case of thyroid fibromatosis, a rare lesion of this gland. ( 27855230 )
2016
47
Mesenteric Fibromatosis in Crohn's Disease as a Potential Effect of Adalimumab. ( 27144199 )
2016
48
Juvenile hyaline fibromatosis: report of a rare case at an advanced stage with osteosclerosis and scoliosis. ( 27061595 )
2016
49
Desmoid Fibromatosis Presenting as Deep Venous Thrombosis: A Case Report and Discussion. ( 27994217 )
2016
50
Pregnancy after abdominal wall mesh repair in desmoid fibromatosis. ( 28007018 )
2016

Variations for Fibromatosis

Expression for Fibromatosis

Search GEO for disease gene expression data for Fibromatosis.

Pathways for Fibromatosis

Pathways related to Fibromatosis according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.98 APC CTNNB1 KIT SOS1 VIM
2
Show member pathways
12.7 APC CTNNB1 KIT SOS1
3 12.55 APC CTNNB1 KIT SOS1
4
Show member pathways
12.44 APC CTNNB1 KIT SOS1
5
Show member pathways
12.11 APC CTNNB1 KIT
6 11.89 APC CTNNB1 SOS1
7 11.85 APC CTNNB1 REST VIM
8 11.75 APC CTNNB1 REST
9
Show member pathways
11.61 APC CTNNB1 VIM
10 11.56 APC CTNNB1 SOS1
11 11.48 APC CTNNB1 SOS1
12 11.19 ACTC1 CTNNB1
13 11.06 CTNNB1 VIM
14 11.02 APC CTNNB1
15 10.99 ACTC1 DES VIM
16 10.89 APC CTNNB1
17 10.71 APC CTNNB1
18 10.63 APC CTNNB1 SOS1
19 10.61 KIT SOS1

GO Terms for Fibromatosis

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.8 ACTC1 APC CTNNB1 DES VIM
2 lamellipodium GO:0030027 9.54 ACTC1 APC CTNNB1
3 cell-cell junction GO:0005911 9.5 CTNNB1 DES KIT
4 beta-catenin destruction complex GO:0030877 9.26 APC CTNNB1
5 fascia adherens GO:0005916 9.16 CTNNB1 DES
6 catenin complex GO:0016342 8.96 APC CTNNB1
7 Wnt signalosome GO:1990909 8.62 APC CTNNB1
8 cytosol GO:0005829 10.03 ACTC1 APC CTNNB1 DES REST SAMD9

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.62 ACTC1 CTNNB1 KIT VIM
2 positive regulation of apoptotic process GO:0043065 9.46 APC CTNNB1 REST SOS1
3 T cell differentiation GO:0030217 9.43 CTNNB1 KIT
4 beta-catenin destruction complex disassembly GO:1904886 9.4 APC CTNNB1
5 intermediate filament organization GO:0045109 9.37 DES VIM
6 positive regulation of pseudopodium assembly GO:0031274 9.26 APC KIT
7 regulation of T cell proliferation GO:0042129 8.96 CTNNB1 SOS1
8 muscle filament sliding GO:0030049 8.8 ACTC1 DES VIM

Sources for Fibromatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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