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

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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
Frequent overexpression of HMGA2 in human atypical teratoid/rhabdoid tumor and its correlation with let-7a3/let-7b miRNA. (24423609)
2014
2
A Primary Spinal Extradural Atypical Teratoid/Rhabdoid Tumor of the Cervical Spine With Bony Involvement. (24396129)
2014
3
Cribriform neuroepithelial tumor or atypical teratoid/rhabdoid tumor? (23667911)
2013
4
Ion channels in pediatric CNS Atypical Teratoid/Rhabdoid Tumor (AT/RT) cells: potential targets for novel therapeutic agents. (21971736)
2012
5
Atypical teratoid/rhabdoid tumor: analysis of cytomorphologic features in CSF, focused on the differential diagnosis from mimickers. (21197644)
2012
6
Treatment for primary spinal atypical teratoid/rhabdoid tumor. (21720800)
2012
7
Survival outcomes in atypical teratoid rhabdoid tumor for patients undergoing radiotherapy in a Surveillance, Epidemiology, and End Results analysis. (22213196)
2012
8
Atypical teratoid/rhabdoid tumor with 26-year overall survival: case report. (22462705)
2012
9
Tandem high-dose chemotherapy and autologous stem cell transplantation in young children with atypical teratoid/rhabdoid tumor of the central nervous system. (22323859)
2012
10
Histone deacetylase inhibition decreases proliferation and potentiates the effect of ionizing radiation in atypical teratoid/rhabdoid tumor cells. (22156471)
2012
11
Treatment-related morbidity in atypical teratoid/rhabdoid tumor: multifocal necrotizing leukoencephalopathy. (21613772)
2011
12
Supratentorial atypical teratoid rhabdoid tumor: An uncommon childhood tumor. (21977104)
2011
13
Atypical teratoid/rhabdoid tumor: short clinical description and insight into possible mechanism of the disease. (21159066)
2011
14
Absence of chromosome 19q13.41 amplification in a case of atypical teratoid/rhabdoid tumor with ependymoblastic differentiation. (21086133)
2011
15
Differential expression profiling between atypical teratoid/rhabdoid and medulloblastoma tumor in vitro and in vivo using microarray analysis. (19902219)
2010
16
Atypical teratoid rhabdoid tumor of the brain: case series and review of literature. (19484251)
2009
17
Array analysis and molecular studies of INI1 in an infant with deletion 22q13 (Phelan-McDermid syndrome) and atypical teratoid/rhabdoid tumor. (19334084)
2009
18
Atypical teratoid/rhabdoid tumor of the central nervous system. (19636570)
2009
19
Intensive multimodality treatment for children with newly diagnosed CNS atypical teratoid rhabdoid tumor. (19064966)
2009
20
Resveratrol-induced apoptosis and increased radiosensitivity in CD133-positive cells derived from atypical teratoid/rhabdoid tumor. (19362240)
2009
21
Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor. (19938088)
2009
22
Rare intraparenchymal choroid plexus carcinoma resembling atypical teratoid/rhabdoid tumor diagnosed by immunostaining for INI1 protein. (19795969)
2009
23
Atypical teratoid/rhabdoid tumor of the central nervous system associated with congenital cataract. (18723966)
2008
24
Central nervous system atypical teratoid rhabdoid tumor: experience at the National Institute of Pediatrics, Mexico City. (17876589)
2008
25
Atypical teratoid rhabdoid tumor (AT/RT) in adults: review of four cases. (18369529)
2008
26
Imaging characteristics of atypical teratoid-rhabdoid tumor in children compared with medulloblastoma. (18287456)
2008
27
Atypical teratoid/rhabdoid tumor arising in the setting of a pleomorphic xanthoastrocytoma. (17431546)
2007
28
A case of congenital supratentorial tumor: atypical teratoid/rhabdoid tumor or primitive neuroectodermal tumor? (18021375)
2007
29
Atypical teratoid/rhabdoid tumor of the spine in an adult: case report and review of the literature. (17377740)
2007
30
Atypical teratoid/rhabdoid tumor of the spinal canal. (16411024)
2006
31
Abdominal seeding of an atypical teratoid/rhabdoid tumor of the pineal gland along a ventriculoperitoneal shunt catheter. (16328512)
2006
32
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
33
Clinicopathologic and immunohistochemical study of atypical teratoid/rhabdoid tumor of central nervous system]. (17069697)
2006
34
Chromosome 22q deletions in atypical teratoid/rhabdoid tumors in adults. (15779233)
2005
35
Atypical teratoid/rhabdoid tumors of the central nervous system. (16195799)
2005
36
Neuroradiological findings in atypical teratoid/rhabdoid tumor of the central nervous system. (15841745)
2005
37
Atypical teratoid/rhabdoid tumor of the cerebellum: report of two infantile cases. (15037476)
2004
38
Atypical teratoid/rhabdoid tumor: an unusual presentation. (15322781)
2004
39
Double immunolabeling of central nervous system atypical teratoid/rhabdoid tumors. (15105808)
2004
40
Cerebral atypical teratoid/rhabdoid tumor of infancy: long-term survival after multimodal treatment, also including triple intrathecal chemotherapy and gamma knife radiosurgery--case report. (12746165)
2003
41
A unique occurrence of a cerebral atypical teratoid/rhabdoid tumor in an infant and a spinal canal primitive neuroectodermal tumor in her father. (12675315)
2003
42
Aberrations of the hSNF5/INI1 gene are restricted to malignant rhabdoid tumors or atypical teratoid/rhabdoid tumors in pediatric solid tumors. (11921280)
2002
43
Spinal atypical teratoid/rhabdoid tumor in an infant. (10867562)
2000
44
Atypical teratoid/rhabdoid tumor--a stereogram unveiled. (10331072)
1999
45
Atypical teratoid/rhabdoid tumor of the CNS: cytopathology and immunohistochemistry of insulin-like growth factor-II, insulin-like growth factor receptor type 1, cathepsin D, and Ki-67. (10229502)
1999
46
Clinicopathological characteristics of atypical teratoid/rhabdoid tumor. (10437379)
1999
47
Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. (9892189)
1999
48
A 4-year-old girl with a ventriculoperitoneal shunt metastasis of a central nervous system atypical teratoid/rhabdoid tumor. (10219345)
1999
49
Characterization of a primary central nervous system atypical teratoid/rhabdoid tumor and derivative cell line: immunophenotype and neoplastic properties. (9786246)
1998
50
Monosomy 22 in rhabdoid or atypical teratoid tumors of the brain. (2770830)
1989

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