Aliases & Classifications for Angiomyolipoma

MalaCards integrated aliases for Angiomyolipoma:

Name: Angiomyolipoma 12 51 41 14 69
Angiomyolipoma of Kidney 69

Classifications:



External Ids:

Disease Ontology 12 DOID:3314
MeSH 41 D018207
NCIt 46 C3734
SNOMED-CT 64 19929002
UMLS 69 C0206633

Summaries for Angiomyolipoma

Disease Ontology : 12 A cell type benign neoplasm that from perivascular epithelioid cells.

MalaCards based summary : Angiomyolipoma, also known as angiomyolipoma of kidney, is related to kidney angiomyolipoma and hepatic angiomyolipoma. An important gene associated with Angiomyolipoma is TSC2 (TSC Complex Subunit 2), and among its related pathways/superpathways are Endometrial cancer and Pathways in cancer. The drugs Afinitor and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and breast, and related phenotypes are cellular and behavior/neurological

Wikipedia : 72 Angiomyolipomas are the most common benign tumour of the kidney. Although regarded as benign,... more...

Related Diseases for Angiomyolipoma

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

(show top 50) (show all 233)
# Related Disease Score Top Affiliating Genes
1 kidney angiomyolipoma 33.6 MTOR TSC1 TSC2
2 hepatic angiomyolipoma 33.3 KIT MTOR
3 tuberous sclerosis 1 32.2 CCL26 TSC1 TSC2
4 tuberous sclerosis 2 31.6 MTOR TSC1 TSC2
5 lymphangioleiomyomatosis 30.9 DES ESR1 MTOR PGR TSC1 TSC2
6 tuberous sclerosis 30.7 CCL26 MTOR TSC1 TSC2
7 subependymal giant cell astrocytoma 30.3 MTOR TSC1 TSC2
8 horseshoe kidney 30.3 ACTC1 TSC2
9 lung leiomyoma 29.8 ESR1 PGR
10 autosomal dominant polycystic kidney disease 29.7 MTOR TSC1 TSC2
11 congenital heart defects, hamartomas of tongue, and polysyndactyly 29.6 CCL26 TSC1 TSC2
12 neurofibromatosis, type iv, of riccardi 29.2 KIT TSC1 TSC2
13 leiomyoma 29.1 ACTC1 DES ESR1 PGR
14 perivascular epithelioid cell tumor 29.0 ACTC1 DES KIT PGR TSC2
15 renal cell carcinoma, nonpapillary 28.9 CCL26 KIT MITF MTOR TSC1 TSC2
16 cystic nephroma 28.8 ACTC1 DES KIT PGR
17 childhood kidney angiomyolipoma 12.0
18 epithelioid type angiomyolipoma 11.9
19 multiple endocrine neoplasia, type i 10.9
20 polycystic kidney disease, infantile severe, with tuberous sclerosis 10.9
21 hepatitis 10.7
22 fibroblastic rheumatism 10.5 ACTC1 DES
23 angiolipoma 10.5 ACTC1 DES
24 cutaneous leiomyosarcoma 10.5 ACTC1 DES
25 spindle cell lipoma 10.5 ACTC1 DES
26 parachordoma 10.5 ACTC1 DES
27 ossifying fibromyxoid tumor 10.5 ACTC1 DES
28 epithelioid leiomyosarcoma 10.5 ACTC1 DES
29 syringocystadenoma papilliferum 10.5 ACTC1 DES
30 adult hepatocellular carcinoma 10.5 TSC1 TSC2
31 congenital fibrosarcoma 10.5 ACTC1 DES
32 pleomorphic liposarcoma 10.5 ACTC1 DES
33 ischemic fasciitis 10.5 ACTC1 DES
34 multilocular clear cell renal cell carcinoma 10.5 TSC1 TSC2
35 cutaneous fibrous histiocytoma 10.5 ACTC1 DES
36 reticulum cell sarcoma 10.5 ACTC1 DES
37 dedifferentiated liposarcoma 10.4 ACTC1 DES
38 spindle cell sarcoma 10.4 ACTC1 DES
39 lissencephaly with cerebellar hypoplasia 10.4 TSC1 TSC2
40 pseudosarcomatous fibromatosis 10.4 ACTC1 DES
41 lymphangiomatosis 10.4 DES PGR
42 glomus tumor 10.4 ACTC1 DES
43 non-langerhans-cell histiocytosis 10.4 ACTC1 DES
44 pyogenic granuloma 10.4 ACTC1 MTOR
45 calcifying aponeurotic fibroma 10.4 ACTC1 PGR
46 epulis 10.4 DES PGR
47 plasmablastic lymphoma 10.4 DES MTOR
48 bizarre leiomyoma 10.4 ACTC1 PGR
49 myxoid leiomyosarcoma 10.4 ACTC1 PGR
50 angiomatosis 10.4 CCL26 TSC2

Graphical network of the top 20 diseases related to Angiomyolipoma:



Diseases related to Angiomyolipoma

Symptoms & Phenotypes for Angiomyolipoma

MGI Mouse Phenotypes related to Angiomyolipoma:

43 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.25 TYR ACTC1 KIT DES ESR1 MITF
2 behavior/neurological MP:0005386 10.22 TYR KIT DES ESR1 MITF TSC1
3 cardiovascular system MP:0005385 10.21 TYR ACTC1 KIT DES ESR1 TSC1
4 homeostasis/metabolism MP:0005376 10.19 TYR ACTC1 KIT DES ESR1 MITF
5 embryo MP:0005380 10.14 TYR KIT ESR1 MITF TSC1 MTOR
6 endocrine/exocrine gland MP:0005379 10.13 TYR KIT ESR1 MITF TSC1 MTOR
7 mortality/aging MP:0010768 10.13 TYR ACTC1 KIT DES ESR1 MITF
8 growth/size/body region MP:0005378 10.11 TSC2 TYR ESR1 ACTC1 KIT MITF
9 integument MP:0010771 10.02 TYR KIT ESR1 MITF TSC1 TSC2
10 muscle MP:0005369 9.95 ACTC1 KIT DES ESR1 TSC1 MTOR
11 normal MP:0002873 9.86 TYR ACTC1 KIT ESR1 MITF MTOR
12 limbs/digits/tail MP:0005371 9.85 TYR KIT ESR1 MITF PGR
13 neoplasm MP:0002006 9.85 TYR KIT ESR1 TSC1 TSC2 PGR
14 no phenotypic analysis MP:0003012 9.8 TYR KIT ESR1 MITF MTOR PGR
15 renal/urinary system MP:0005367 9.63 TYR TSC2 KIT ESR1 MTOR TSC1
16 reproductive system MP:0005389 9.5 TYR TSC2 KIT ESR1 PGR TSC1
17 skeleton MP:0005390 9.17 TYR KIT ESR1 MITF PGR MTOR

Drugs & Therapeutics for Angiomyolipoma

FDA approved drugs:

# Drug Name Active Ingredient(s) 17 Company Approval Date
1
Afinitor 17 45 EVEROLIMUS Novartis March 2009

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

(show all 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 4,Phase 3,Phase 2,Phase 1 159351-69-6 6442177
2
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 53123-88-9 46835353 6436030 5284616
4
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
5 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
6 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1
7 Antifungal Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
9 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
10 Antimalarials Phase 4
11 Antiparasitic Agents Phase 4
12 Antiprotozoal Agents Phase 4
13
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
14
Propranolol Approved, Investigational Phase 2 525-66-6 4946
15
Octreotide Approved, Investigational Phase 2 83150-76-9 6400441 383414
16
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
17
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
18
Menthol Approved Phase 2 2216-51-5 16666
19
Saracatinib Investigational Phase 2 379231-04-6
20 Aromatase Inhibitors Phase 2
21 Estrogen Antagonists Phase 2
22 Estrogens Phase 2
23 Hormone Antagonists Phase 2
24 Hormones Phase 2
25 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
26 Steroid Synthesis Inhibitors Phase 2
27 Adrenergic Agents Phase 2
28 Adrenergic Antagonists Phase 2
29 Adrenergic beta-Antagonists Phase 2
30 Angiogenesis Inhibitors Phase 2
31 Anti-Arrhythmia Agents Phase 2
32 Antihypertensive Agents Phase 2
33 Neurotransmitter Agents Phase 2
34 Vasodilator Agents Phase 2
35 Antineoplastic Agents, Hormonal Phase 2
36 Gastrointestinal Agents Phase 2
37 Analgesics Phase 2
38 Analgesics, Non-Narcotic Phase 2
39 Anti-Inflammatory Agents Phase 2
40 Anti-Inflammatory Agents, Non-Steroidal Phase 2
41 Antirheumatic Agents Phase 2
42 Cyclooxygenase 2 Inhibitors Phase 2
43 Cyclooxygenase Inhibitors Phase 2
44 Peripheral Nervous System Agents Phase 2
45 Liver Extracts Phase 2
46 Cola Nutraceutical Phase 2

Interventional clinical trials:

(show all 21)

# Name Status NCT ID Phase Drugs
1 Rapamycin In Angiomyolipomas In Patients With Tuberous Sclerosis Completed NCT01217125 Phase 4 Sirolimus
2 Doxycycline In Lymphangioleiomyomatosis (LAM) Completed NCT00989742 Phase 4 Doxycycline;Placebo
3 Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00790400 Phase 3 Everolimus (RAD001);Everolimus Placebo
4 Sirolimus in Treating Patients With Angiomyolipoma of the Kidney Unknown status NCT00126672 Phase 2 sirolimus
5 Trial of Efficacy and Safety of Sirolimus in Tuberous Sclerosis and LAM Unknown status NCT00490789 Phase 2 sirolimus
6 Single Arm Trial With Combination of Everolimus and Letrozole in Treatment of Platinum Resistant Relapse or Refractory or Persistent Ovarian Cancer/Endometrial Cancer Unknown status NCT02188550 Phase 2 everolimus and letrozole
7 Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers Completed NCT02104011 Phase 2 Propranolol
8 RAD001 Therapy of Angiomyolipomata in Patients With TS Complex and Sporadic LAM Completed NCT00457964 Phase 1, Phase 2 RAD001
9 Long Term Follow Up for RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis (TSC) and Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00792766 Phase 1, Phase 2 everolimus (RAD001)
10 Rapamycin Therapy for Patients With Tuberous Sclerosis Complex and Sporadic LAM Completed NCT00457808 Phase 2 Rapamycin, sirolimus
11 Treatment With Octreotide in Patients With Lymphangioleiomyomatosis Completed NCT00005906 Phase 2 Octreotide
12 Sporadic Angiomyolipomas (AMLs) Growth Kinetics While on Everolimus Recruiting NCT02539459 Phase 2 Everolimus
13 A Pilot Study To Evaluate The Effects of Everolimus on Brain mTOR Activity and Cortical Hyperexcitability in TSC and FCD Recruiting NCT02451696 Phase 2 Everolimus
14 COLA: A Pilot Clinical Trial of COX-2 Inhibition in LAM and TSC Recruiting NCT02484664 Phase 2 Celecoxib
15 Safety and Efficacy of Saracatinib In Subjects With Lymphangioleiomyomatosis Recruiting NCT02737202 Phase 2 saracatinib
16 A Phase II Study of Orally Administered BEZ235 Monotherapy in Patients With Metastatic or Unresectable Malignant PEComa Withdrawn NCT01690871 Phase 2 BEZ235
17 Tuberous Sclerosis Complex Natural History Study: Renal Manifestations Completed NCT00598455
18 Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma Recruiting NCT02325505
19 Clinical Presentation and Renal Outcome of Patients With Tuberous Sclerosis Complex and/or Renal Angiomyolipoma in the Great West Region of France Recruiting NCT02887781
20 A National Registry on Chinese Patients With Lymphangioleiomyomatosis Recruiting NCT03193892
21 EASYX-1 : A Multicenter Study on Safety and Efficacy of Easyx Liquid Embolization Agent Used in Five Separate Indications Not yet recruiting NCT03477149 Not Applicable

Search NIH Clinical Center for Angiomyolipoma

Cochrane evidence based reviews: angiomyolipoma

Genetic Tests for Angiomyolipoma

Anatomical Context for Angiomyolipoma

MalaCards organs/tissues related to Angiomyolipoma:

38
Kidney, Liver, Breast, Lung, Endothelial, Colon, Brain

Publications for Angiomyolipoma

Articles related to Angiomyolipoma:

(show top 50) (show all 833)
# Title Authors Year
1
Massive hematuria at pregnancy caused by ruptured angiomyolipoma: A case report. ( 29254628 )
2018
2
Hepatic angiomyolipoma detected using computed tomography. ( 29392859 )
2018
3
Expression of MDM2 and p16 in Angiomyolipoma. ( 29432785 )
2018
4
Huge retroperitoneal epithelioid angiomyolipoma: A case report. ( 29276686 )
2018
5
Spontaneous reduction of native kidney size involving angiomyolipoma lesions in a kidney transplant recipient with tuberous sclerosis complex. ( 29417638 )
2018
6
Angiomyolipoma of the Liver without a Fat Component, Mimicking a Hepatocellular Carcinoma. ( 29361814 )
2018
7
Extrarenal retroperitoneal angiomyolipoma with oncocytoma. ( 29343920 )
2018
8
Superselective Transcatheter Arterial Embolization for Large Unruptured Renal Angiomyolipoma in Lymphangioleiomyomatosis. ( 29398412 )
2018
9
Factors associated with the number and size of renal angiomyolipomas in sporadic angiomyolipoma (sAML): a study of adult patients with sAML managed in a Dutch tertiary referral center. ( 29333579 )
2018
10
mTORC1 Inhibition Is an Effective Treatment for Sporadic Renal Angiomyolipoma. ( 29340326 )
2018
11
Hepatic angiomyolipoma presenting as an arterially enhancing liver lesion. ( 29392818 )
2018
12
The effect of everolimus on renal angiomyolipoma in pediatric patients with tuberous sclerosis being treated for subependymal giant cell astrocytoma. ( 28993887 )
2018
13
Cryoablation of Renal Angiomyolipoma: An Evaluation of Safety and Efficacy. ( 28830229 )
2017
14
Hepatic angiomyolipomas may overexpress TFE3, but have no relevant genetic alterations. ( 27865795 )
2017
15
Clinical and genetic analysis of tuberous sclerosis complex-associated renal angiomyolipoma in Chinese pedigrees. ( 29344138 )
2017
16
Renal Angiomyolipoma: Radiologic Classification and Imaging Features According to the Amount of Fat. ( 28726505 )
2017
17
Peroxisome proliferator-activated receptor gamma (PPARI^) is central to the initiation and propagation of human angiomyolipoma, suggesting its potential as a therapeutic target ( 28275008 )
2017
18
Distinct subcellular localization of E-cadherin between epithelioid angiomyolipoma and triphasic angiomyolipoma: A preliminary case-control study. ( 28693223 )
2017
19
Ang-1 and Ang-2 expression in angiomyolipoma and PEComa family tumors. ( 28053374 )
2017
20
Primary hepatic angiomyolipoma: immunohistochemistry and electron microscopic observations: a case report. ( 28327196 )
2017
21
Epithelioid Angiomyolipoma - a case report and review of the literature. ( 29341516 )
2017
22
Angiomyolipoma of the scrotum: report of a rarely seen case and review of the literature. ( 28717551 )
2017
23
Fat poor angiomyolipoma differentiation from renal cell carcinoma at 320-slice dynamic volume CT perfusion. ( 28828638 )
2017
24
Re: Small (< 4 cm) Renal Tumors with Predominantly Low Signal Intensity on T2-Weighted Images: Differentiation of Minimal-Fat Angiomyolipoma from Renal Cell Carcinoma. ( 29370605 )
2017
25
Renal Angiomyolipoma With Incidental Oncocytoma: A Case Report and Review of Literature. ( 29088523 )
2017
26
Quantitative computer-aided diagnostic algorithm for automated detection of peak lesion attenuation in differentiating clear cell from papillary and chromophobe renal cell carcinoma, oncocytoma, and fat-poor angiomyolipoma on multiphasic multidetector computed tomography. ( 28280876 )
2017
27
Recurrent, Giant Renal Angiomyolipoma Treated with Selective Arterial Embolization: A Case Report. ( 29275410 )
2017
28
Management of hepatic angiomyolipoma: A systematic review. ( 28177188 )
2017
29
Healthcare utilization and costs in patients with tuberous sclerosiscomplex-related renal angiomyolipoma. ( 27998195 )
2017
30
Concurrent Oncocytoma and Two Angiomyolipomas in a Diabetic Kidney: A Very Rare Condition. ( 28918618 )
2017
31
Small (< 4 cm) Renal Tumors With Predominantly Low Signal Intensity on T2-Weighted Images: Differentiation of Minimal-Fat Angiomyolipoma From Renal Cell Carcinoma. ( 27824487 )
2017
32
Giant renal angiomyolipoma: A case report. ( 28781806 )
2017
33
The sunburst sign in renal angiomyolipoma. ( 28828502 )
2017
34
Renal epithelioid angiomyolipoma: MRI findings. ( 28695453 )
2017
35
Retroperitoneal extrarenal angiomyolipoma at the surgical bed 8 years after a renal angiomyolipoma nephrectomy: A case report and review of literature. ( 28794601 )
2017
36
Renal Epithelioid Angiomyolipoma Associated with Pulmonary Lymphangioleiomyomatosis: Imaging Findings. ( 28584685 )
2017
37
Ascending cholangitis: rare presentation of a ruptured right-sided renal angiomyolipoma. ( 29026516 )
2017
38
Angiomyolipoma of the Adrenal Gland: A Report of Two Cases and Review of the Literature. ( 28904331 )
2017
39
Efficacy of Everolimus for Treating Renal Angiomyolipoma with Inferior Vena Cava Thrombus Associated with Tuberous Sclerosis: A Case Report. ( 28083476 )
2017
40
Nasal angiomyolipoma: Report of two cases of an extremely rare entity. ( 28937379 )
2017
41
The Histopathological Features and CT/MRI Imaging Performances in Hepatic Angiomyolipoma Patients. ( 28809731 )
2017
42
Clinico-pathological correlation of hepatic angiomyolipoma: a series of 23 resection cases. ( 28122404 )
2017
43
A case of ruptured hepatic angiomyolipoma in a young male. ( 28449573 )
2017
44
Laparoscopic partial nephrectomy with prior superselective embolisation as treatment for giant renal angiomyolipoma. ( 28803678 )
2017
45
Familial genetic tuberous sclerosis complex associated with bilateral giant renal angiomyolipoma: A case report. ( 29344140 )
2017
46
Spontaneous rupture of renal angiomyolipoma during pregnancy. ( 28062422 )
2017
47
Fluorine-18-FDG PET/CT in a patient with angiomyolipoma: Response to mammalian target of rapamycin inhibitor therapy. ( 28697195 )
2017
48
Intermittent everolimus administration for renal angiomyolipoma associated with tuberous sclerosis complex. ( 28905429 )
2017
49
Selecting a suitable surgical treatment for hepatic angiomyolipoma: a retrospective analysis of 92 cases. ( 29241297 )
2017
50
Effect of everolimus treatment for renal angiomyolipoma associated with tuberous sclerosis complex: an evaluation based on tumor density. ( 29256023 )
2017

Variations for Angiomyolipoma

Expression for Angiomyolipoma

Search GEO for disease gene expression data for Angiomyolipoma.

Pathways for Angiomyolipoma

Pathways related to Angiomyolipoma according to GeneCards Suite gene sharing:

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.71 KIT MITF MTOR TSC1 TSC2
2 12.62 ESR1 KIT MITF MTOR
3
Show member pathways
12.53 ESR1 KIT MTOR PGR
4
Show member pathways
12.1 MTOR TSC1 TSC2
5 12.06 MTOR TSC1 TSC2
6
Show member pathways
12.06 KIT MTOR TSC1 TSC2
7
Show member pathways
11.98 MTOR TSC1 TSC2
8 11.95 MTOR TSC1 TSC2
9
Show member pathways
11.9 MTOR TSC1 TSC2
10
Show member pathways
11.89 MTOR TSC1 TSC2
11 11.81 MTOR TSC1 TSC2
12 11.78 MTOR TSC1 TSC2
13 11.72 ESR1 MTOR TSC2
14 11.68 MTOR TSC1 TSC2
15 11.64 ESR1 MTOR TSC1 TSC2
16 11.51 MTOR TSC1 TSC2
17 11.28 MTOR TSC1 TSC2
18 11.16 MTOR TSC1 TSC2
19 11.08 MTOR TSC2
20 11.02 MTOR TSC2
21 10.78 MTOR TSC1
22 10.66 MTOR TSC1 TSC2
23 10.55 ESR1 MTOR TSC1 TSC2

GO Terms for Angiomyolipoma

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

# Name GO ID Score Top Affiliating Genes
1 TSC1-TSC2 complex GO:0033596 8.62 TSC1 TSC2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.67 ACTC1 KIT MITF MTOR
2 cell cycle arrest GO:0007050 9.63 MTOR TSC1 TSC2
3 negative regulation of TOR signaling GO:0032007 9.52 TSC1 TSC2
4 stem cell differentiation GO:0048863 9.51 ESR1 KIT
5 negative regulation of insulin receptor signaling pathway GO:0046627 9.49 TSC1 TSC2
6 positive regulation of macroautophagy GO:0016239 9.48 TSC1 TSC2
7 melanocyte differentiation GO:0030318 9.43 KIT MITF
8 regulation of osteoclast differentiation GO:0045670 9.4 MITF MTOR
9 negative regulation of macroautophagy GO:0016242 9.32 MTOR TSC1
10 anoikis GO:0043276 9.26 MTOR TSC2
11 negative regulation of cell size GO:0045792 9.16 MTOR TSC1
12 positive regulation of phospholipase C activity GO:0010863 8.96 ESR1 KIT
13 pigmentation GO:0043473 8.8 KIT MITF TYR

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

# Name GO ID Score Top Affiliating Genes
1 steroid binding GO:0005496 8.62 ESR1 PGR

Sources for Angiomyolipoma

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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