MCID: ATY005
MIFTS: 55

Atypical Teratoid Rhabdoid Tumor malady

Cancer diseases category

Summaries for Atypical Teratoid Rhabdoid Tumor

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8Disease Ontology, 63Wikipedia, 46OMIM, 32MalaCards
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Disease Ontology:8 An embryonal cancer that is usually located in the brain, but can occur anywhere in the central nervous system.

MalaCards: Atypical Teratoid Rhabdoid Tumor, also known as atypical teratoid/rhabdoid tumor, is related to medulloblastoma and ganglioglioma. An important gene associated with Atypical Teratoid Rhabdoid Tumor is SMARCB1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1), and among its related pathways are Glioma and Integrins in angiogenesis. The compounds estrogen and butyrate have been mentioned in the context of this disorder. Affiliated tissues include brain, pineal and cerebellum, and related mouse phenotypes are reproductive system and muscle.

Wikipedia:63 Atypical teratoid rhabdoid tumor (AT/RT) is a rare tumor usually diagnosed in childhood. Although... more...

Description from OMIM:46 609322

Aliases & Classifications for Atypical Teratoid Rhabdoid Tumor

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8Disease Ontology, 10DISEASES, 48Orphanet, 60UMLS, 39NCIt, 56SNOMED-CT, 46OMIM, 57SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases


Characteristics (Orphanet epidemiological data):

48
atypical teratoid/rhabdoid tumor:
Inheritance: Sporadic; Age of onset: Childhood


Aliases & Descriptions:

atypical teratoid rhabdoid tumor 8 10
atypical teratoid/rhabdoid tumor 8 48 60
rhabdoid tumor of the cns 8
at/rt 48


External Ids:

Disease Ontology8 DOID:2129
NCIt39 C6906
SNOMED-CT56 128792003
OMIM46 609322
SNOMED-CT via Orphanet57 128792003

Related Diseases for Atypical Teratoid Rhabdoid Tumor

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17GeneCards, 18GeneDecks
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Diseases related to Atypical Teratoid Rhabdoid Tumor via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 200)
idRelated DiseaseScoreTop Affiliating Genes
1medulloblastoma31.2SMARCB1, ACTC1, GFAP, RASSF1, IGF1R, IGF2
2ganglioglioma30.8GFAP, SYP
3choroid plexus carcinoma30.7SMARCB1
4acute leukemia30.5SMARCB1, HSP90AA1
5beckwith-wiedemann syndrome30.5IGF1R, IGF2
6leukemia30.5CDH2, CTSD, CCND1, HSP90AA1
7osteosarcoma30.4SPP1, CDH2, IGF1R, IGF2, BMP1, HSP90AA1
8sarcoma30.4SMARCB1, ACTC1, MUC1, IGF1R, IGF2, DES
9primitive neuroectodermal tumor10.7
10cerebritis10.6
11choroiditis10.6
12cervicitis10.6
13childhood medulloblastoma10.5
14meningitis10.5
15cerebral primitive neuroectodermal tumor10.3
16neurofibromatosis10.3
17canavan disease10.3
18supratentorial primitive neuroectodermal tumor10.3
19ectomesenchymoma10.3
20mutism10.3
21nodular medulloblastoma10.3
22pleomorphic xanthoastrocytoma10.3
23cataract10.3
24hydrocephalus10.3
25lymphoblastic leukemia10.3
26peritonitis10.3
27phelan-mcdermid syndrome10.3
28neuroblastoma10.0SYP
29hemangioma10.0ACTC1
30pituitary adenoma10.0SYP
31von hippel-lindau disease10.0RASSF1
32rhabdoid cancer10.0SMARCB1
33merkel cell carcinoma10.0SYP
34congenital mesoblastic nephroma10.0SMARCB1
35fasciitis10.0ACTC1
36medulloepithelioma10.0SYP
37melanotic neuroectodermal tumor10.0SYP
38sertoli-leydig cell tumor10.0MUC1
39infantile myofibromatosis10.0DES
40collecting duct carcinoma10.0SMARCB1
41osteofibrous dysplasia10.0SPP1
42cystadenocarcinoma10.0MUC1
43ductal carcinoma in situ10.0CCND1
44nephroblastoma10.0CTNNB1
45cervical squamous cell carcinoma10.0RASSF1
46multiple myeloma10.0CCND1
47hepatitis c10.0HSP90AA1
48oral cancer10.0CCND1
49esophageal cancer10.0CCND1
50giant cell glioblastoma10.0GFAP

Graphical network of the top 20 diseases related to Atypical Teratoid Rhabdoid Tumor:



Diseases related to atypical teratoid rhabdoid tumor

Clinical Features for Atypical Teratoid Rhabdoid Tumor

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46OMIM
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Clinical features from OMIM:

609322

Drugs & Therapeutics for Atypical Teratoid Rhabdoid Tumor

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Atypical Teratoid Rhabdoid Tumor

Drug clinical trials:

Search ClinicalTrials for Atypical Teratoid Rhabdoid Tumor

Search NIH Clinical Center for Atypical Teratoid Rhabdoid Tumor

Search CenterWatch for Atypical Teratoid Rhabdoid Tumor

Genetic Tests for Atypical Teratoid Rhabdoid Tumor

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Anatomical Context for Atypical Teratoid Rhabdoid Tumor

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32MalaCards
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MalaCards organs/tissues related to Atypical Teratoid Rhabdoid Tumor:

32
Brain, Pineal, Cerebellum, Spinal cord, Lung

Animal Models for Atypical Teratoid Rhabdoid Tumor or affiliated genes

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36MGI
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Publications for Atypical Teratoid Rhabdoid Tumor

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50PubMed
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Articles related to Atypical Teratoid Rhabdoid Tumor:

(show top 50)    (show all 160)
idTitleAuthorsYear
1
CRX/OTX3: a useful marker in the differential diagnosis of tumors of the pineal region and indicator of photoreceptor differentiation in medulloblastomas and atypical teratoid rhabdoid tumors. (23235340)
2013
2
Inhibition of EZH2 suppresses self-renewal and induces radiation sensitivity in atypical rhabdoid teratoid tumor cells. (23190500)
2013
3
Cribriform neuroepithelial tumor or atypical teratoid/rhabdoid tumor? (23667911)
2013
4
Treatment for primary spinal atypical teratoid/rhabdoid tumor. (21720800)
2012
5
Targeting Aurora Kinase A enhances radiation sensitivity of atypical teratoid rhabdoid tumor cells. (22246202)
2012
6
Tandem high-dose chemotherapy and autologous stem cell transplantation in young children with atypical teratoid/rhabdoid tumor of the central nervous system. (22323859)
2012
7
Atypical teratoid rhabdoid tumor: current therapy and future directions. (22988546)
2012
8
Suberoylanilide hydroxamic acid affects I^H2AX expression in osteosarcoma, atypical teratoid rhabdoid tumor and normal tissue cell lines after irradiation. (22249335)
2012
9
Supratentorial atypical teratoid rhabdoid tumor: An uncommon childhood tumor. (21977104)
2011
10
Atypical teratoid rhabdoid tumor mimicking beta-catenin-positive nodular medulloblastoma. (21229255)
2011
11
Case of atypical teratoid/rhabdoid tumor in an adult, with long survival. (21181449)
2011
12
Primary atypical teratoid/rhabdoid tumor of the spine in an infant. (21311641)
2010
13
Disabling c-Myc in childhood medulloblastoma and atypical teratoid/rhabdoid tumor cells by the potent G-quadruplex interactive agent S2T1-6OTD. (20053783)
2010
14
High-dose chemotherapy and autologous stem cell rescue for atypical teratoid/rhabdoid tumor of the central nervous system. (19936623)
2010
15
Primary diffuse cerebral leptomeningeal atypical teratoid rhabdoid tumor: report of the first case. (20020178)
2010
16
Surgical treatment of a clival-C2 atypical teratoid/rhabdoid tumor. (20043739)
2010
17
Atypical teratoid rhabdoid tumor of the brain: case series and review of literature. (19484251)
2009
18
Array analysis and molecular studies of INI1 in an infant with deletion 22q13 (Phelan-McDermid syndrome) and atypical teratoid/rhabdoid tumor. (19334084)
2009
19
Atypical teratoid/rhabdoid tumor of the central nervous system. (19636570)
2009
20
Intensive multimodality treatment for children with newly diagnosed CNS atypical teratoid rhabdoid tumor. (19064966)
2009
21
Atypical teratoid/rhabdoid tumor of the central nervous system: clinicopathologic and immunohistochemical features of four cases. (19212771)
2009
22
Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor. (19938088)
2009
23
Childhood atypical teratoid rhabdoid tumor of the central nervous system: a meta-analysis of observational studies. (19707161)
2009
24
Rare intraparenchymal choroid plexus carcinoma resembling atypical teratoid/rhabdoid tumor diagnosed by immunostaining for INI1 protein. (19795969)
2009
25
Successful multimodal therapies for a primary atypical teratoid/rhabdoid tumor in the cervical spine. (18703889)
2008
26
Central nervous system atypical teratoid rhabdoid tumor: experience at the National Institute of Pediatrics, Mexico City. (17876589)
2008
27
Imaging characteristics of atypical teratoid-rhabdoid tumor in children compared with medulloblastoma. (18287456)
2008
28
Atypical teratoid/rhabdoid tumor mimicking tuberculous meningitis. (18451456)
2008
29
An immunohistochemical and electron microscopic study of atypical teratoid/rhabdoid tumor. (18987833)
2008
30
Establishment of atypical-teratoid/rhabdoid tumor (AT/RT) cell cultures from disseminated CSF cells: a model to elucidate biology and potential targeted therapeutics. (18651103)
2008
31
Atypical teratoid/rhabdoid tumor of the spine. (17353344)
2007
32
Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome. (17603804)
2007
33
Atypical teratoid/rhabdoid tumor evolving from an optic pathway ganglioglioma: case study. (16443951)
2006
34
Abdominal seeding of an atypical teratoid/rhabdoid tumor of the pineal gland along a ventriculoperitoneal shunt catheter. (16328512)
2006
35
Atypical teratoid-rhabdoid tumor spreading along the trigeminal nerve. (16714870)
2006
36
Immunohistochemical analysis of INI1 protein in malignant pediatric CNS tumors: Lack of INI1 in atypical teratoid/rhabdoid tumors and in a fraction of primitive neuroectodermal tumors without rhabdoid phenotype. (17063089)
2006
37
Atypical teratoid/rhabdoid tumor of the velum interpositum presenting as a spontaneous intraventricular hemorrhage in an infant: case report with long-term survival. (16636624)
2006
38
Elevation of plasma and cerebrospinal fluid osteopontin levels in patients with atypical teratoid/rhabdoid tumor. (15842057)
2005
39
Cyclin D1 is overexpressed in atypical teratoid/rhabdoid tumor with hSNF5/INI1 gene inactivation. (15981100)
2005
40
Atypical teratoid/rhabdoid tumor of the cerebellum: report of two infantile cases. (15037476)
2004
41
Central nervous system atypical teratoid/rhabdoid tumor: results of therapy in children enrolled in a registry. (15254056)
2004
42
Double immunolabeling of central nervous system atypical teratoid/rhabdoid tumors. (15105808)
2004
43
Alpha-internexin expression in medulloblastomas and atypical teratoid-rhabdoid tumors. (14531545)
2003
44
Aberrations of the hSNF5/INI1 gene are restricted to malignant rhabdoid tumors or atypical teratoid/rhabdoid tumors in pediatric solid tumors. (11921280)
2002
45
Atypical teratoid/rhabdoid tumor or medulloblastoma? (11344497)
2001
46
An atypical rhabdoid/teratoid tumor. A presentation of three cases and review of the literature]. (11391487)
2001
47
Atypical teratoid/rhabdoid tumor--a stereogram unveiled. (10331072)
1999
48
Simultaneous presentation of atypical teratoid/rhabdoid tumor in siblings. (10448873)
1999
49
A 4-year-old girl with a ventriculoperitoneal shunt metastasis of a central nervous system atypical teratoid/rhabdoid tumor. (10219345)
1999
50
Characterization of a primary central nervous system atypical teratoid/rhabdoid tumor and derivative cell line: immunophenotype and neoplastic properties. (9786246)
1998

Genetic Variations for Atypical Teratoid Rhabdoid Tumor

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Expression for genes affiliated with Atypical Teratoid Rhabdoid Tumor

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Atypical Teratoid Rhabdoid Tumor

Search GEO for disease gene expression data for Atypical Teratoid Rhabdoid Tumor.

Pathways for genes affiliated with Atypical Teratoid Rhabdoid Tumor

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29KEGG, 37NCBI BioSystems Database, 53Reactome, 12EMD Millipore, 4Cell Signaling Technology, 51QIAGEN
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Pathways related to Atypical Teratoid Rhabdoid Tumor according to GeneCards/GeneDecks:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.9IGF1R, HSP90AA1
29.9IGF1R, HSP90AA1
39.9ACTC1, IGF2, BMP1
4
Hide members
9.8VIM, DES, ACTC1
59.8DES, AURKA, VIM
69.8SPP1, IGF1R, IGF2
79.7ACTC1, CDH2, CTNNB1
8
Hide members
9.7HSP90AA1, IGF2, IGF1R
99.7CDH2, MUC1, CTNNB1
109.6CDH2, CTNNB1, VIM
11
Hide members
9.5SPP1, IGF1R, CTNNB1, CCND1
12
Hide members
9.5CTNNB1, DES, CDH2, ACTC1
139.5CCND1, CTNNB1, IGF2, IGF1R
149.5IGF1R, IGF2, CTNNB1, CCND1
15
Hide members
9.4HSP90AA1, CCND1, IGF2, IGF1R
16
Hide members
9.4VIM, DES, INA, GFAP
179.3VIM, CCND1, CTNNB1, CDH2
189.3HSP90AA1, CCND1, CTNNB1, IGF1R, RASSF1
19
Hide members
9.1VIM, HSP90AA1, CTNNB1, BMP1, CDH2
20
Hide members
7.8SPP1, VIM, CCND1, CTNNB1, BMP1, DES

Compounds for genes affiliated with Atypical Teratoid Rhabdoid Tumor

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44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Atypical Teratoid Rhabdoid Tumor according to GeneCards/GeneDecks:

(show top 50)    (show all 141)
idCompoundScoreTop Affiliating Genes
1estrogen4410.7GFAP
2butyrate4410.7GFAP
3glutamate4410.5BMP1, GFAP
4mucicarmine449.8MUC1, VIM, DES, ACTC1, SYP
5dihydrotestosterone44 28 11 2412.8VIM, HSP90AA1, DES, IGF1R
6s 100449.7VIM, DES, SYP, MUC1, GFAP, ACTC1
7reticulin449.7VIM, ACTC1, GFAP, MUC1, SYP, DES
8hematoxylin449.6VIM, DES, ACTC1, GFAP, MUC1, SYP
9steroid449.5CTSD, ACTC1, HSP90AA1, CCND1, SYP, DES
10b 723449.5ACTC1, VIM, CDH2, MUC1, SYP, DES
11creatinine449.4SPP1, IGF1R, GFAP, IGF2, ACTC1, SYP
12trastuzumab44 49 1111.4CCND1, CTSD, MUC1, IGF1R, HSP90AA1, CTNNB1
13neomycin449.4VIM, HSP90AA1, IGF2, GFAP, SPP1
14dexamethasone44 49 28 1112.3GFAP, IGF2, CTNNB1, IGF1R, CDH2, SPP1
15paclitaxel44 49 1111.3GFAP, CTSD, CCND1, IGF1R, CTNNB1, IGF2
16hyaluronic acid44 2410.2VIM, CTSD, DES, MUC1, SPP1, IGF1R
17serine449.2DES, CCND1, AURKA, RASSF1, GFAP, CDH2
18formaldehyde44 2410.2MUC1, VIM, CCND1, CTSD, DES, GFAP
19bromodeoxyuridine449.2CCND1, IGF1R, VIM, CTNNB1, GFAP, DES
20progestin449.2CCND1, CTSD, IGF2, VIM, IGF1R, MUC1
21gefitinib44 49 1111.2IGF2, CTNNB1, VIM, CCND1, IGF1R
22adriamycin449.2CCND1, CTNNB1, VIM, CTSD, DES, IGF1R
23imatinib44 49 1111.2DES, HSP90AA1, IGF2, CCND1, IGF1R, ACTC1
24h2o2449.1HSP90AA1, VIM, IGF1R, SYP, DES, CTSD
25phalloidin449.1CDH2, DES, CTNNB1, VIM
265fluorouracil449.0HSP90AA1, MUC1, IGF1R, CTNNB1, IGF2, CTSD
27thymidine44 249.9IGF1R, MUC1, GFAP, IGF2, CTSD, CTNNB1
28glutamine448.8VIM, HSP90AA1, CTNNB1, CTSD, SYP, IGF2
29tamoxifen44 49 28 1111.8HSP90AA1, IGF1R, IGF2, CCND1, VIM, MUC1
30glucose448.8CTSD, IGF1R, MUC1, CDH2, GFAP, ACTC1
31lactate448.8GFAP, SPP1, IGF1R, IGF2, DES, CTSD
32doxorubicin44 49 1110.8CCND1, IGF1R, CTSD, CTNNB1, HSP90AA1, VIM
33estradiol44 11 2410.8IGF2, GFAP, SYP, IGF1R, DES, MUC1
344-hydroxytamoxifen448.7CDH2, CTNNB1, HSP90AA1, IGF1R, IGF2, CTSD
35matrigel448.7CDH2, GFAP, ACTC1, SPP1, IGF1R, CCND1
36agar448.6IGF1R, IGF2, CTSD, GFAP, SPP1, CCND1
37threonine448.6MUC1, SPP1, GFAP, CCND1, AURKA, HSP90AA1
38arginine448.5BMP1, VIM, CTNNB1, HSP90AA1, SPP1, GFAP
39alanine448.5IGF1R, RASSF1, HSP90AA1, VIM, GFAP, IGF2
40cisplatin44 49 59 1111.5CTNNB1, CTSD, SYP, CCND1, HSP90AA1, IGF2
41adenylate448.4IGF2, GFAP, CDH2, IGF1R, DES, CCND1
42genistein44 28 59 2 11 2413.4SYP, CCND1, CTNNB1, CTSD, IGF1R, CDH2
43glycogen44 249.3ACTC1, GFAP, MUC1, VIM, CTNNB1, DES
44tyrosine448.0IGF1R, IGF2, SYP, GFAP, ACTC1, SPP1
45paraffin447.9SPP1, ACTC1, GFAP, CDH2, MUC1, IGF1R
46cysteine447.8IGF2, IGF1R, MUC1, CDH2, GFAP, SYP
47testosterone44 59 11 2410.6HSP90AA1, VIM, CCND1, CTNNB1, CTSD, SPP1
48progesterone44 59 28 11 2411.6SPP1, CCND1, ACTC1, GFAP, VIM, CDH2
49vegf447.6ACTC1, SYP, DES, CTSD, CTNNB1, CCND1
50retinoic acid44 248.1SPP1, ACTC1, GFAP, RASSF1, INA, CDH2

GO Terms for genes affiliated with Atypical Teratoid Rhabdoid Tumor

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16Gene Ontology
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Cellular components related to Atypical Teratoid Rhabdoid Tumor according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1catenin complexGO:0163429.9CDH2, CTNNB1
2fascia adherensGO:0059169.4CDH2, DES, CTNNB1

Biological processes related to Atypical Teratoid Rhabdoid Tumor according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1Bergmann glial cell differentiationGO:06002010.1VIM, GFAP
2astrocyte developmentGO:01400210.0VIM, GFAP
3muscle filament slidingGO:0300499.9ACTC1, DES, VIM
4response to vitamin EGO:0331979.8IGF1R, CCND1
5extracellular matrix organizationGO:0301989.7SPP1, GFAP, BMP1, CTSD
6intermediate filament organizationGO:0451099.7GFAP, VIM
7positive regulation of MAPK cascadeGO:0434109.5CDH2, IGF1R, IGF2, CTNNB1

Molecular functions related to Atypical Teratoid Rhabdoid Tumor according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein phosphatase bindingGO:0199039.6CDH2, CTNNB1, HSP90AA1
2alpha-catenin bindingGO:0452949.6CTNNB1, CDH2
3protein kinase bindingGO:0199019.5CTNNB1, AURKA, CCND1, HSP90AA1
4structural constituent of cytoskeletonGO:0052009.5VIM, DES, INA, GFAP
5identical protein bindingGO:0428028.9RASSF1, CLDN6, IGF1R, SYP, DES, HSP90AA1
6protein bindingGO:0055157.3CTNNB1, AURKA, CCND1, HSP90AA1, VIM, CTSD

Products for genes affiliated with Atypical Teratoid Rhabdoid Tumor

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Sources for Atypical Teratoid Rhabdoid Tumor

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet