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MCID: SPN009
MIFTS: 31

Spindle Cell Rhabdomyosarcoma

Categories: Cancer diseases, Muscle diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Spindle Cell Rhabdomyosarcoma

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MalaCards integrated aliases for Spindle Cell Rhabdomyosarcoma:

Name: Spindle Cell Rhabdomyosarcoma 12 15 74

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Muscle diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:3260
NCIt 51 C6519
UMLS 74 C1266134
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Summaries for Spindle Cell Rhabdomyosarcoma

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MalaCards based summary : Spindle Cell Rhabdomyosarcoma is related to embryonal rhabdomyosarcoma and rhabdomyosarcoma. An important gene associated with Spindle Cell Rhabdomyosarcoma is MYOD1 (Myogenic Differentiation 1), and among its related pathways/superpathways are Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and Regulation of nuclear SMAD2/3 signaling. The drugs Vincristine and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include bone, tongue and prostate.

Wikipedia : 77 Spindle cell rhabdomyosarcoma is a subtype of embryonal rhabdomyosarcoma first described by Cavazzana,... more...

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Related Diseases for Spindle Cell Rhabdomyosarcoma

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Diseases related to Spindle Cell Rhabdomyosarcoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 124)
# Related Disease Score Top Affiliating Genes
1 embryonal rhabdomyosarcoma 32.5 DES MB MYOD1
2 rhabdomyosarcoma 31.1 DES MB MYOD1
3 gallbladder sarcoma 10.3 DES MYOD1
4 liposarcoma 10.3 DES MB
5 inflammatory leiomyosarcoma 10.3 DES MYOD1
6 malignant fibrous histiocytoma of bone 10.3 DES MYOD1
7 horner's syndrome 10.3 DES MYOD1
8 giant cell myocarditis 10.3 DES MB
9 myofibroma 10.2 DES MB
10 breast rhabdomyosarcoma 10.2 MB MYOD1
11 bilateral retinoblastoma 10.2 DES MB
12 gliomatosis peritonei 10.2 DES GFAP
13 primitive neuroectodermal tumor of the cervix uteri 10.2 DES GFAP
14 histiocytoma 10.2 MB MYOD1
15 pleomorphic rhabdomyosarcoma 10.2 MB MYOD1
16 adenosarcoma 10.2 DES MB
17 adult fibrosarcoma 10.2 MB MYOD1
18 rhabdoid cancer 10.2 MB MYOD1
19 gas gangrene 10.2 MB MYOD1
20 infantile myofibromatosis 10.2 DES MB
21 uterine sarcoma 10.2 DES MB
22 meninges sarcoma 10.2 GFAP MB
23 spindle cell thymoma 10.2 DES MUC1
24 biphasic synovial sarcoma 10.1 DES MUC1
25 desmoplastic small round cell tumor 10.1 DES MUC1
26 perivascular epithelioid cell tumor 10.1 DES MUC1
27 ischemic fasciitis 10.1 DES MUC1
28 fasciitis 10.1 DES MUC1
29 proximal spinal muscular atrophy 10.1 DES MUC1
30 reticulum cell sarcoma 10.1 DES MUC1
31 extraskeletal ewing sarcoma 10.1 DES MUC1
32 plasmablastic lymphoma 10.1 DES MUC1
33 skeletal muscle cancer 10.1 MB MYOD1
34 muscle tissue disease 10.1 MB MYOD1
35 clear cell ependymoma 10.1 GFAP MUC1
36 spindle cell carcinoma 10.1 DES MUC1
37 clear cell meningioma 10.1 GFAP MUC1
38 botryoid rhabdomyosarcoma 10.0 DES MB MYOD1
39 mesenchymoma 10.0 DES MB MYOD1
40 myxofibrosarcoma 10.0 DES S100B
41 pericardial mesothelioma 10.0 MB MUC1
42 malignant mesenchymoma 10.0 DES MB MYOD1
43 muscle cancer 10.0 DES MB MYOD1
44 epithelioid sarcoma 10.0 MB MUC1
45 fibrous histiocytoma 10.0 DES S100B
46 alveolar soft part sarcoma 10.0 DES MB MYOD1
47 rhabdomyosarcoma 2 10.0 DES MB MYOD1
48 juvenile xanthogranuloma 10.0 DES S100B
49 cutaneous fibrous histiocytoma 10.0 DES S100B
50 carcinosarcoma 10.0 DES MUC1

Graphical network of the top 20 diseases related to Spindle Cell Rhabdomyosarcoma:



Diseases related to Spindle Cell Rhabdomyosarcoma
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Symptoms & Phenotypes for Spindle Cell Rhabdomyosarcoma

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Drugs & Therapeutics for Spindle Cell Rhabdomyosarcoma

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Drugs for Spindle Cell Rhabdomyosarcoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
2
Cyclophosphamide Approved, Investigational Phase 3 6055-19-2, 50-18-0 2907
3
Dactinomycin Approved, Investigational Phase 3 50-76-0 457193 2019
4
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
5
Irinotecan Approved, Investigational Phase 3 100286-90-6, 97682-44-5 60838
6
Sirolimus Approved, Investigational Phase 3 53123-88-9 46835353 6436030 5284616
7
Everolimus Approved Phase 3 159351-69-6 6442177 70789204
8
Vinorelbine Approved, Investigational Phase 3 71486-22-1 60780 44424639
9
Morphine Approved, Investigational Phase 3 57-27-2 5288826
10
Camptothecin Experimental Phase 3 7689-03-4
11
Emodepside Investigational, Vet_approved Phase 3 155030-63-0
12 Antibiotics, Antitubercular Phase 3
13 Immunologic Factors Phase 3
14 Antirheumatic Agents Phase 3
15 Alkylating Agents Phase 3
16 Nucleic Acid Synthesis Inhibitors Phase 3
17 Antineoplastic Agents, Phytogenic Phase 3
18 Antineoplastic Agents, Alkylating Phase 3
19 Anti-Infective Agents Phase 3
20 Antimitotic Agents Phase 3
21 Immunosuppressive Agents Phase 3
22 Anti-Bacterial Agents Phase 3
23 Topoisomerase Inhibitors Phase 3
24 topoisomerase I inhibitors Phase 3
25 Antifungal Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Vincristine, Dactinomycin, and Cyclophosphamide With or Without Radiation Therapy in Treating Patients With Newly Diagnosed Low-Risk Rhabdomyosarcoma Unknown status NCT00075582 Phase 3 dactinomycin;cyclophosphamide;vincristine sulfate
2 Combination Chemotherapy With or Without Temsirolimus in Treating Patients With Intermediate Risk Rhabdomyosarcoma Recruiting NCT02567435 Phase 3 Cyclophosphamide;Irinotecan Hydrochloride;Temsirolimus;Vincristine Sulfate;Vinorelbine

Search NIH Clinical Center for Spindle Cell Rhabdomyosarcoma

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Genetic Tests for Spindle Cell Rhabdomyosarcoma

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Anatomical Context for Spindle Cell Rhabdomyosarcoma

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MalaCards organs/tissues related to Spindle Cell Rhabdomyosarcoma:

42
Bone, Tongue, Prostate
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Publications for Spindle Cell Rhabdomyosarcoma

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Articles related to Spindle Cell Rhabdomyosarcoma:

(show all 34)
# Title Authors Year
1
Spindle cell rhabdomyosarcoma of bone with FUS-TFCP2 fusion: confirmation of a very recently described rhabdomyosarcoma subtype. ( 29758589 )
2018
2
Spindle cell rhabdomyosarcoma of the anterior mandible manifesting as a periapical lesion of pulpal origin: Case report. ( 29665230 )
2018
3
Lumbar Intraspinal Spindle Cell Rhabdomyosarcoma as a Rare Cause of Spinal Stenosis: A Case Report. ( 29452297 )
2018
4
Combined Sclerosing and Spindle Cell Rhabdomyosarcoma in Previous Craniotomy Site: A Case Report and a Review of the Literature. ( 30270691 )
2018
5
Spindle-cell rhabdomyosarcoma of the thumb: Rare site, rare tumor in a child. ( 27502215 )
2016
6
Paratesticular Spindle Cell Rhabdomyosarcoma. ( 26500726 )
2015
7
An adult spindle cell rhabdomyosarcoma in the head and neck region with long-term survival: a case report. ( 24946859 )
2014
8
Spindle cell rhabdomyosarcoma of the retroperitoneum: an unusual case developed in a pregnant woman but obscured by pregnancy. ( 25197361 )
2014
9
Spindle cell rhabdomyosarcoma in the hypopharynx of an adult. ( 25197406 )
2014
10
An Adult Case of Paratesticular Spindle Cell Rhabdomyosarcoma. ( 26839788 )
2014
11
Transactivating mutation of the MYOD1 gene is a frequent event in adult spindle cell rhabdomyosarcoma. ( 24272621 )
2014
12
Spindle cell rhabdomyosarcoma of the neck with t(6;8) translocation: report of a case and literature review. ( 23113671 )
2013
13
Spindle cell rhabdomyosarcoma displaying CD34 positivity: a potential diagnostic pitfall; report of two pediatric cases. ( 24022313 )
2013
14
Spindle cell rhabdomyosarcoma: a brief diagnostic review and differential diagnosis. ( 23899074 )
2013
15
Recurrent NCOA2 gene rearrangements in congenital/infantile spindle cell rhabdomyosarcoma. ( 23463663 )
2013
16
Spindle cell rhabdomyosarcoma of the prostate. ( 23320845 )
2013
17
Exfoliative cytologic findings of maxillary sinus spindle cell rhabdomyosarcoma. ( 20518428 )
2010
18
Aggressive spindle cell rhabdomyosarcoma in an 11-month-old boxer dog. ( 20460837 )
2010
19
Sclerosing spindle cell rhabdomyosarcoma in an adult: report of a new case and review of the literature. ( 19017660 )
2010
20
Unique case of giant adult paratesticular spindle cell rhabdomyosarcoma. ( 19036416 )
2009
21
[Clinicopathologic analysis of spindle cell rhabdomyosarcoma: report of 8 cases]. ( 18646700 )
2008
22
Radiation-induced mandibular adult spindle cell rhabdomyosarcoma. ( 18023143 )
2008
23
Spindle cell rhabdomyosarcoma in adults: clinicopathological and immunohistochemical analysis of seven new cases. ( 17013628 )
2006
24
Kit expression in spindle cell rhabdomyosarcoma can possibly create a different approach for its tumorigenesis and therapy. ( 16860492 )
2006
25
Spindle cell rhabdomyosarcoma in adults. ( 16006807 )
2005
26
Paratesticular spindle cell rhabdomyosarcoma diagnosed by fine needle aspiration cytology: a case report. ( 15966299 )
2005
27
Spindle cell rhabdomyosarcoma of the tongue in an infant: a case report with emphasis on differential diagnosis of childhood spindle cell lesions. ( 15462501 )
2004
28
Spindle-cell rhabdomyosarcoma with 2q36 approximately q37 involvement. ( 12550761 )
2003
29
Paratesticular spindle cell rhabdomyosarcoma in an adult. ( 11458081 )
2001
30
Spindle cell rhabdomyosarcoma in adults. A case report and literature review. ( 10674275 )
2000
31
Cytogenetic study of a spindle-cell rhabdomyosarcoma of the parotid gland. ( 10087951 )
1999
32
Spindle cell rhabdomyosarcoma (so-called) in adults: report of two cases with emphasis on differential diagnosis. ( 9537474 )
1998
33
Spindle cell rhabdomyosarcoma: histologic variant of embryonal rhabdomyosarcoma with association to favorable prognosis. ( 7882713 )
1995
34
Spindle cell rhabdomyosarcoma. A prognostically favorable variant of rhabdomyosarcoma. ( 1599014 )
1992
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Variations for Spindle Cell Rhabdomyosarcoma

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Cosmic variations for Spindle Cell Rhabdomyosarcoma:

9 (show top 50) (show all 112)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM45005 TP53 soft tissue,NS,rhabdomyosarcoma,embryonal c.739A>G p.N247D 17:7674224-7674224 0
2 COSM11081 TP53 soft tissue,NS,rhabdomyosarcoma,embryonal c.733G>T p.G245C 17:7674230-7674230 0
3 COSM10662 TP53 soft tissue,NS,rhabdomyosarcoma,embryonal c.743G>A p.R248Q 17:7674220-7674220 0
4 COSM10654 TP53 soft tissue,NS,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 0
5 COSM44720 TP53 soft tissue,NS,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 0
6 COSM6932 TP53 soft tissue,NS,rhabdomyosarcoma,embryonal c.733G>A p.G245S 17:7674230-7674230 0
7 COSM45255 TP53 soft tissue,NS,rhabdomyosarcoma,embryonal c.668C>G p.P223R 17:7674863-7674863 0
8 COSM6986214 SOX9 soft tissue,NS,rhabdomyosarcoma,embryonal c.76A>G p.M26V 17:72121467-72121467 0
9 COSM6986215 PTPRT soft tissue,NS,rhabdomyosarcoma,embryonal c.2277G>T p.Q759H 20:42248779-42248779 0
10 COSM13016 PTPN11 soft tissue,NS,rhabdomyosarcoma,embryonal c.226G>C p.E76Q 12:112450406-112450406 0
11 COSM14271 PTPN11 soft tissue,NS,rhabdomyosarcoma,embryonal c.1508G>T p.G503V 12:112489084-112489084 0
12 COSM13014 PTPN11 soft tissue,NS,rhabdomyosarcoma,embryonal c.214G>A p.A72T 12:112450394-112450394 0
13 COSM13013 PTPN11 soft tissue,NS,rhabdomyosarcoma,embryonal c.205G>A p.E69K 12:112450385-112450385 0
14 COSM6986208 PTCH1 soft tissue,NS,rhabdomyosarcoma,embryonal c.208G>A p.A70T 9:95506593-95506593 0
15 COSM6910708 POLE soft tissue,NS,rhabdomyosarcoma,embryonal c.5975G>C p.C1992S 12:132634215-132634215 0
16 COSM1083818 PIK3CG soft tissue,NS,rhabdomyosarcoma,embryonal c.2638G>A p.E880K 7:106883041-106883041 0
17 COSM763 PIK3CA soft tissue,NS,rhabdomyosarcoma,embryonal c.1633G>A p.E545K 3:179218303-179218303 0
18 COSM775 PIK3CA soft tissue,NS,rhabdomyosarcoma,embryonal c.3140A>G p.H1047R 3:179234297-179234297 0
19 COSM760 PIK3CA soft tissue,NS,rhabdomyosarcoma,embryonal c.1624G>A p.E542K 3:179218294-179218294 0
20 COSM6914067 PDGFRA soft tissue,NS,rhabdomyosarcoma,embryonal c.3195G>C p.E1065D 4:54295197-54295197 0
21 COSM6964921 NTRK3 soft tissue,NS,rhabdomyosarcoma,embryonal c.492C>A p.C164* 15:88137534-88137534 0
22 COSM580 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.181C>A p.Q61K 1:114713909-114713909 0
23 COSM585 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.183A>T p.Q61H 1:114713907-114713907 0
24 COSM564 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.35G>A p.G12D 1:114716126-114716126 0
25 COSM569 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.37G>C p.G13R 1:114716124-114716124 0
26 COSM584 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.182A>G p.Q61R 1:114713908-114713908 0
27 COSM563 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.34G>A p.G12S 1:114716127-114716127 0
28 COSM574 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.38G>T p.G13V 1:114716123-114716123 0
29 COSM562 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.34G>T p.G12C 1:114716127-114716127 0
30 COSM6910706 NOTCH1 soft tissue,NS,rhabdomyosarcoma,embryonal c.3277T>C p.Y1093H 9:136508280-136508280 0
31 COSM6933086 NF1 soft tissue,NS,rhabdomyosarcoma,embryonal c.7870G>C p.A2624P 17:31357269-31357269 0
32 COSM1745010 MYOD1 soft tissue,NS,rhabdomyosarcoma,embryonal c.365T>G p.L122R 11:17720147-17720147 0
33 COSM516 KRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.34G>T p.G12C 12:25245351-25245351 0
34 COSM521 KRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.35G>A p.G12D 12:25245350-25245350 0
35 COSM532 KRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.38G>A p.G13D 12:25245347-25245347 0
36 COSM522 KRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.35G>C p.G12A 12:25245350-25245350 0
37 COSM553 KRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.182A>T p.Q61L 12:25227342-25227342 0
38 COSM6930430 KMT2D soft tissue,NS,rhabdomyosarcoma,embryonal c.1291G>T p.E431* 12:49052392-49052392 0
39 COSM2965310 KDM6A soft tissue,NS,rhabdomyosarcoma,embryonal c.493C>T p.R165* 23:45020659-45020659 0
40 COSM486 HRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.37G>C p.G13R 11:534286-534286 0
41 COSM496 HRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.181C>A p.Q61K 11:533875-533875 0
42 COSM483 HRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.35G>T p.G12V 11:534288-534288 0
43 COSM481 HRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.34G>T p.G12C 11:534289-534289 0
44 COSM480 HRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.34G>A p.G12S 11:534289-534289 0
45 COSM5702570 FGFR1 soft tissue,NS,rhabdomyosarcoma,embryonal c.1611G>T p.M537I 8:38417358-38417358 0
46 COSM1251469 ERCC5 soft tissue,NS,rhabdomyosarcoma,embryonal c.3256G>A p.G1086R 13:102875598-102875598 0
47 COSM959251 DICER1 soft tissue,NS,rhabdomyosarcoma,embryonal c.5113G>A p.E1705K 14:95094139-95094139 0
48 COSM3744763 DICER1 soft tissue,NS,rhabdomyosarcoma,embryonal c.5428G>T p.D1810Y 14:95091302-95091302 0
49 COSM3738451 DICER1 soft tissue,NS,rhabdomyosarcoma,embryonal c.5439G>T p.E1813D 14:95091291-95091291 0
50 COSM3738549 DICER1 soft tissue,NS,rhabdomyosarcoma,embryonal c.5365-1G>T p.? 14:95091366-95091366 0
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Expression for Spindle Cell Rhabdomyosarcoma

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Search GEO for disease gene expression data for Spindle Cell Rhabdomyosarcoma.
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Pathways for Spindle Cell Rhabdomyosarcoma

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Pathways related to Spindle Cell Rhabdomyosarcoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Neural Stem Cell Differentiation Pathways and Lineage-specific Markers 66
10.85 GFAP S100B
2
Regulation of nuclear SMAD2/3 signaling 1
10.51 MYOD1 NCOA2
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GO Terms for Spindle Cell Rhabdomyosarcoma

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Cellular components related to Spindle Cell Rhabdomyosarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament cytoskeleton GO:0045111 8.62 DES GFAP

Biological processes related to Spindle Cell Rhabdomyosarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 long-term synaptic potentiation GO:0060291 8.96 GFAP S100B
2 intermediate filament organization GO:0045109 8.62 DES GFAP

Molecular functions related to Spindle Cell Rhabdomyosarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.13 MUC1 MYOD1 NCOA2
2 nuclear hormone receptor binding GO:0035257 8.62 MYOD1 NCOA2
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Sources for Spindle Cell Rhabdomyosarcoma

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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