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SEGA
MCID: SBP001
MIFTS: 44

Subependymal Giant Cell Astrocytoma (SEGA) malady

Neuronal, Cancer categories
17 genes, 4 tissues, 183 related diseases, clinical trials.

Summaries for Subependymal Giant Cell Astrocytoma

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33MalaCards
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MalaCards: Subependymal Giant Cell Astrocytoma, also known as SEGA, is related to astrocytoma and tuberous sclerosis. An important gene associated with Subependymal Giant Cell Astrocytoma is TSC1 (tuberous sclerosis 1), and among its related pathways are Inhibition of TSC complex formation by PKB and mTOR signaling pathway. The compounds estrogen and streptozotocin have been mentioned in the context of this disorder. Affiliated tissues include skin, spinal cord and brain, and related mouse phenotypes are muscle and homeostasis/metabolism.

Aliases & Classifications for Subependymal Giant Cell Astrocytoma

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8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 49Orphanet, 61UMLS, 45Novoseek, 40NCIt, 35MeSH, 57SNOMED-CT
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Classifications:

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


Aliases & Descriptions:

subependymal giant cell astrocytoma 8 43 10 49 61
sega 8 43 49
astrocytoma subependymal giant cell 45


External Ids:

Disease Ontology8 DOID:5077
NCIt40 C3696
SNOMED-CT57 1586004
MeSH35 D001254

Related Diseases for Subependymal Giant Cell Astrocytoma

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17GeneCards, 18GeneDecks
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Diseases related to Subependymal Giant Cell Astrocytoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 183)
idRelated DiseaseScoreTop Affiliating Genes
1astrocytoma32.0VIM, S100B, NES, SYP, MAP2, GFAP
2tuberous sclerosis31.8VIM, S100B, NES, MTOR, SYP, MAP2
3tuberous sclerosis complex31.6TSC2, TSC1
4angiomyolipoma30.8VIM, MTOR, TSC1, TSC2
5giant cell glioblastoma30.5GFAP
6subependymoma30.5TSC2
7gemistocytic astrocytoma30.5S100B, GFAP
8central neurocytoma30.5SYP, MAP2, GFAP
9spinal cord astrocytoma10.3
10subependymal glioma10.3
11lymphedema, congenital10.3
12multiple sclerosis 110.3
13perivascular epithelioid cell tumor10.0TSC2
14kidney rhabdoid cancer10.0TSC2
15dysembryoplastic neuroepithelial tumor10.0SYP
16neuropathy10.0SGCA
17melanotic neuroectodermal tumor10.0SYP
18phaeochromocytoma10.0NPY
19medulloepithelioma10.0SYP
20gliosarcoma10.0GFAP
21pneumothorax10.0TSC1
22down syndrome10.0S100B
23hypertension10.0NPY
24retinal detachment10.0GFAP
25gliomatosis cerebri10.0GFAP
26thymic carcinoma10.0SYP
27constipation10.0CCK
28histiocytosis10.0S100B
29primary hyperoxaluria10.0MTOR
30mixed glioma10.0GFAP
31hydrocephalus10.0TSC1, NES
32alcohol dependence10.0NPY
33osteoarthritis10.0NPY
34von hippel-lindau disease10.0TSC2, NPY
35gastroesophageal reflux disease10.0CCK
36lymphangioleiomyomatosis10.0TSC2, TSC1
37pancreas disease10.0CCK
38papilloma10.0TP53
39osteosarcoma10.0TP53
40endometrial carcinoma10.0TP53
41encephalitis10.0CALB1, GFAP
42adrenocortical carcinoma10.0TP53
43colon cancer10.0TP53
44hyperinsulinemic hypoglycemia10.0SST
45cerebral primitive neuroectodermal tumor10.0ENO2
46pineoblastoma10.0GFAP, SYP
47epulis10.0ENO2
48irritable bowel syndrome10.0CCK
49galactosemia10.0SST
50pituitary tumors10.0SST

Graphical network of the top 20 diseases related to Subependymal Giant Cell Astrocytoma:



Diseases related to subependymal giant cell astrocytoma

Clinical Features for Subependymal Giant Cell Astrocytoma

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Drugs & Therapeutics for Subependymal Giant Cell Astrocytoma

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Subependymal Giant Cell Astrocytoma

Drug clinical trials:

Search ClinicalTrials for Subependymal Giant Cell Astrocytoma

Search NIH Clinical Center for Subependymal Giant Cell Astrocytoma

Search CenterWatch for Subependymal Giant Cell Astrocytoma

Genetic Tests for Subependymal Giant Cell Astrocytoma

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Anatomical Context for Subependymal Giant Cell Astrocytoma

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33MalaCards
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MalaCards organs/tissues related to Subependymal Giant Cell Astrocytoma:

33
Skin, Spinal cord, Brain, Fetal brain

Animal Models for Subependymal Giant Cell Astrocytoma or affiliated genes

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37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Subependymal Giant Cell Astrocytoma:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1
muscle phenotype
MP:00053699.1TP53, TSC1, SGCA, GFAP
2
homeostasis/metabolism phenotype
MP:00053768.3CCK, NPY, FABP7, MTOR, GFAP, SGCA
3
no phenotypic analysis
MP:00030127.9CCK, FABP7, MTOR, SYP, SST, TP53
4
normal phenotype
MP:00028737.6S100B, NPY, MTOR, SYP, SST, GFAP
5
nervous system phenotype
MP:00036317.2TSC1, CCK, CALB1, NPY, FABP7, SYP
6
growth/size phenotype
MP:00053786.7VIM, NPY, NES, MTOR, SST, MAP2
7
behavior/neurological phenotype
MP:00053865.1NES, FABP7, NPY, S100B, CALB1, VIM

Publications for Subependymal Giant Cell Astrocytoma

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51PubMed
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Articles related to Subependymal Giant Cell Astrocytoma:

(show top 50)    (show all 113)
idTitleAuthorsYear
1
A management strategy for intraventricular subependymal giant cell astrocytomas in tuberous sclerosis complex. (24180681)
2014
2
Resection of subependymal giant cell astrocytoma guided by intraoperative magnetic resonance imaging and neuronavigation. (23397586)
2013
3
Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations. (23391693)
2013
4
Subependymal giant cell astrocytoma associated with tuberous sclerosis presenting with intratumoral bleeding. Case report and review of literature. (23138436)
2013
5
Response of Subependymal Giant Cell Astrocytoma With Spinal Cord Metastasis to Everolimus. (24276039)
2013
6
Subependymal giant cell astrocytoma with intratumoral hemorrhage. (23414132)
2013
7
Everolimus in the treatment of subependymal giant cell astrocytomas, angiomyolipomas, and pulmonary and skin lesions associated with tuberous sclerosis complex. (24143074)
2013
8
Subependymal Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex:: Considerations for Surgical or Pharmacotherapeutic Intervention. (24105488)
2013
9
Everolimus for the Treatment of Subependymal Giant Cell Astrocytoma Probably Causing Seizure Aggravation in a Child with Tuberous Sclerosis Complex: A Case Report. (24293099)
2013
10
Subependymal giant cell astrocytoma: diagnosis, screening, and treatment. Recommendations from the International Tuberous Sclerosis Complex Consensus Conference 2012. (24138953)
2013
11
The outcome of surgical management of subependymal giant cell astrocytoma in tuberous sclerosis complex. (23183057)
2013
12
Subependymal giant cell astrocytoma: Cytological findings. (23326038)
2012
13
Squash cytology of subependymal giant cell astrocytoma: report of four cases with brief review of literature. (22431322)
2012
14
Neurology: Letter to the editor. Re: Sun P, Kohrman M, Liu J et al. Outcomes of resecting subependymal giant cell astrocytoma (SEGA) among patients with SEGA-related tuberous sclerosis complex: a national claims database analysis. Curr Med Res Opin 2012;28:657-63. (22876836)
2012
15
Effective everolimus treatment of inoperable, life-threatening subependymal giant cell astrocytoma and intractable epilepsy in a patient with tuberous sclerosis complex. (22000822)
2012
16
Advances in the management of subependymal giant cell astrocytoma. (22562196)
2012
17
Potential of mTOR inhibitors for the treatment of subependymal giant cell astrocytomas in tuberous sclerosis complex. (21415462)
2011
18
Surgical timing of the subependymal giant cell astrocytoma (SEGA) with the patients of tuberous sclerosis complex. (21845566)
2011
19
Subependymal Giant Cell Astrocytoma (SEGA) Treatment Update. (21465222)
2011
20
mTOR inhibitors in the treatment of subependymal giant-cell astrocytomas associated with tuberous sclerosis. (21792104)
2011
21
Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. (21047224)
2010
22
Subependymal giant cell astrocytoma (SEGA): Is it an astrocytoma? Morphological, immunohistochemical and ultrastructural study. (18564101)
2009
23
Fornix damage from solitary subependymal giant cell astrocytoma causing postoperative amnesic syndrome. (19684542)
2009
24
Solitary subependymal giant cell astrocytoma incidentally found at autopsy in an elderly woman without tuberous sclerosis complex. (18673443)
2009
25
Subependymal giant cell astrocytoma with intratumoral hemorrhage in the absence of tuberous sclerosis. (18395450)
2008
26
Subependymal nodules, giant cell astrocytomas and the tuberous sclerosis complex: a population-based study. (18456692)
2008
27
Congenital subependymal giant cell astrocytoma: clinical considerations and expression of radial glial cell markers in giant cells. (18629509)
2008
28
Regression of subependymal giant cell astrocytoma with rapamycin in tuberous sclerosis complex. (18952591)
2008
29
Neonatal subependymal giant cell astrocytoma: new case and review of literature. (17275668)
2007
30
Cytologic characteristics of subependymal giant cell astrocytoma in squash smears: morphometric comparisons with gemistocytic astrocytoma and giant cell glioblastoma. (17536538)
2007
31
Tuberous sclerosis and subependymal giant cell astrocytoma. (16038234)
2005
32
Subependymal giant cell astrocytoma--a clinicopathological study of 23 cases with special emphasis on histogenesis. (15619643)
2004
33
Subependymal giant cell astrocytoma: a report of five cases. (15309659)
2004
34
Subependymal giant cell astrocytoma with positive tuberin expression--case report. (14723270)
2003
35
Rapid regrowth of solitary subependymal giant cell astrocytoma--case report. (12064158)
2002
36
Neonatal subependymal giant cell astrocytoma. (12053047)
2002
37
Subependymal giant cell astrocytoma: clinical and neuroimaging features of four cases. (11322123)
2001
38
Subependymal giant cell astrocytoma associated with tuberous sclerosis exhibiting rapid regrowth after 17 years: a case report]. (10396738)
1999
39
Test and teach. Number ninety one: Part 1. Subependymal giant cell astrocytoma. (10212917)
1999
40
Subependymal giant cell astrocytoma: a clinicopathologic study with HMB45 and MIB-1 immunohistochemical analysis. (9110292)
1997
41
Subependymal giant cell astrocytoma associated with tuberous sclerosis: diagnostic and surgical characteristics of five cases with unusual features. (8884092)
1996
42
Hemorrhagic subependymal giant cell astrocytoma. (7761172)
1995
43
Tuber and subependymal giant cell astrocytoma associated with tuberous sclerosis: an immunohistochemical, ultrastructural, and immunoelectron and microscopic study. (8546029)
1995
44
A neonatal huge subependymal giant cell astrocytoma: case report. (7808622)
1994
45
The cystic growth of a subependymal giant-cell astrocytoma with tuberous sclerosis. (1405432)
1992
46
Cytomorphology of subependymal giant cell astrocytoma. (1543002)
1992
47
Rare subependymal giant-cell astrocytoma in a neonate with tuberous sclerosis. (2124070)
1990
48
Subependymal giant-cell astrocytoma associated with tuberous sclerosis. Do subependymal nodules grow? (2702677)
1989
49
Sequential CT study of subependymal giant-cell astrocytoma associated with tuberous sclerosis. Case report. (3772487)
1986
50
Subependymal giant-cell astrocytoma. Case report with ultrastructural study. (430139)
1979

Genetic Variations for Subependymal Giant Cell Astrocytoma

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Expression for genes affiliated with Subependymal Giant Cell Astrocytoma

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Subependymal Giant Cell Astrocytoma

Search GEO for disease gene expression data for Subependymal Giant Cell Astrocytoma.

Pathways for genes affiliated with Subependymal Giant Cell Astrocytoma

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Sources:
54Reactome, 38NCBI BioSystems Database, 52QIAGEN, 30KEGG, 12EMD Millipore, 53R&D Systems, 4Cell Signaling Technology
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Pathways related to Subependymal Giant Cell Astrocytoma according to GeneCards/GeneDecks:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Inhibition of TSC complex formation by PKB54
10.0TSC2, TSC1
2
mTOR signaling pathway38
9.7MTOR, TSC1, TSC2
3
IRS-related events54
Hide members
9.7MTOR, TSC1, TSC2
4
Energy dependent regulation of mTOR by LKB1-AMPK54
Hide members
9.7MTOR, TSC1, TSC2
5
Glioblastoma Multiforme52
9.4TP53, TSC2, TSC1
6
PIP3 activates AKT signaling54
Hide members
9.3TSC2, GFAP, MTOR, S100B
7
Endometrial cancer30
Hide members
9.3TP53, TSC2, MTOR
8
G-protein signaling Ras family GTPases in kinase cascades (scheme)
Hide members
9.1MTOR, MAP2, TP53
9
Glioma30
Hide members
9.0TP53, TSC2, TSC1, MTOR
10
AMPK signaling38
9.0TP53, TSC2, TSC1, MTOR
11
Development IGF-RI signaling12
Hide members
9.0TP53, TSC2, TSC1, MTOR
12
PI3K-Akt signaling pathway30
9.0TP53, TSC2, TSC1, MTOR
13
Integrated Breast Cancer Pathway38
9.0TP53, TSC2, TSC1, MTOR
14
Akt Signaling Pathway 53
9.0MTOR, TSC1, TSC2, TP53
15
Prostate Cancer38
9.0MTOR, TSC1, TSC2, TP53
16
Spinal Cord Injury38
9.0TP53, GFAP, VIM
17
Cytoskeleton remodeling Neurofilaments12
Hide members
9.0VIM, NES, MAP2, GFAP
18
LKB1 signaling events38
8.6MTOR, MAP2, TSC1, TSC2, TP53
19
Signaling by GPCR54
Hide members
8.0CCK, S100B, NPY, MTOR, SST, GFAP
20
Neuroscience4
7.3ENO2, CALB1, S100B, NPY, FABP7, SYP

Compounds for genes affiliated with Subependymal Giant Cell Astrocytoma

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45Novoseek, 29IUPHAR, 11DrugBank, 50PharmGKB, 60Tocris Bioscience, 24HMDB
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Compounds related to Subependymal Giant Cell Astrocytoma according to GeneCards/GeneDecks:

(show top 50)    (show all 124)
idCompoundScoreTop Affiliating Genes
1estrogen4510.2MAP2, GFAP
2streptozotocin459.6NES, GFAP, SYP, SST
3creatinine459.6SGCA, GFAP, SYP, NPY
4eosin459.4VIM, GFAP, S100B
5reticulin459.4S100B, VIM, SYP, GFAP
6nmda45 2910.3VIM, SYP, GFAP, MAP2
7n-acetylaspartate459.2CALB1, SYP, GFAP
8spec-t459.1ENO2, SST, GFAP, TSC1
9bethanechol45 29 1111.1SST, NPY, CCK
10dmso459.0ENO2, MAP2, NES, NPY
11s 100459.0ENO2, GFAP, SYP, S100B, VIM
12glutamate458.9CCK, CALB1, NPY, FABP7, GFAP
13forskolin45 50 1110.9NPY, CCK, GFAP, ENO2, VIM
14catecholamine458.8VIM, S100B, NPY, SYP, ENO2
15methamphetamine45 50 1110.7GFAP, MAP2, NPY, CALB1
16cocaine45 119.6NPY, MAP2, S100B, CCK, VIM, GFAP
17ganglioside458.6NES, SYP, MAP2, VIM, GFAP, ENO2
18hematoxylin458.5MAP2, GFAP, VIM, SYP, S100B, ENO2
19dbc-amp458.5GFAP, MAP2, SYP, S100B, VIM, ENO2
20tetrodotoxin45 60 2910.5GFAP, ENO2, CALB1, NPY, CCK
21kainate45 299.5NPY, NES, SYP, MAP2, GFAP, CALB1
22l-amino acid458.5ENO2, CALB1, S100B, SYP, MAP2
23vinblastine45 50 1110.5TP53, MAP2, SST, NPY, VIM
24silver458.4ENO2, GFAP, MAP2, SYP, CALB1
25acth458.4SYP, GFAP, SST, NPY, ENO2, S100B
26glucose458.3CALB1, CCK, TSC2, TSC1, GFAP, MAP2
27glutamine458.2NPY, S100B, CCK, SYP, GFAP, ENO2
28leucine458.1VIM, SYP, ENO2, GFAP, S100B, TSC2
29dopamine45 29 11 2411.0ENO2, CCK, CALB1, NPY, NES, MAP2
30acetylcholine45 50 29 11 2412.0ENO2, SST, SYP, NES, CALB1, CCK
31lactate457.9ENO2, S100B, NPY, SST, MAP2, VIM
32formaldehyde45 248.8VIM, CALB1, NPY, SYP, ENO2, GFAP
33bromodeoxyuridine457.7CALB1, ENO2, GFAP, MAP2, NES, S100B
34glycogen45 248.7VIM, S100B, MTOR, SYP, MAP2, GFAP
35potassium45 11 249.7GFAP, CALB1, S100B, SYP, MAP2, ENO2
36lipid457.7GFAP, MTOR, SYP, ENO2, NES, TSC2
37progesterone45 60 29 11 2411.6GFAP, TP53, MAP2, SYP, NES, S100B
38adenylate457.5S100B, GFAP, TSC2, ENO2, MAP2, SST
39norepinephrine45 11 249.4CALB1, CCK, ENO2, MAP2, SYP, NPY
405-hydroxytryptamine457.4CCK, CALB1, SYP, VIM, NPY, SST
41arginine457.4SST, TSC2, TP53, GFAP, MTOR, NPY
42paraffin457.0SYP, NES, NPY, S100B, VIM, MAP2
43atp45 298.0TSC2, VIM, CALB1, S100B, NPY, MTOR
44dexamethasone45 50 29 119.9ENO2, SST, SYP, MTOR, S100B, CALB1
45choline45 11 248.8ENO2, GFAP, MAP2, SST, SYP, NPY
46tyrosine456.5MTOR, GFAP, ENO2, TSC1, TSC2, CCK
47vegf456.4TSC1, NES, TP53, TSC2, SST, MAP2
48gaba456.2ENO2, GFAP, MAP2, SST, SYP, NES
49testosterone45 60 11 249.1TSC2, ENO2, GFAP, MAP2, SST, SYP
50retinoic acid45 246.2GFAP, MTOR, SYP, SST, MAP2, ENO2

GO Terms for genes affiliated with Subependymal Giant Cell Astrocytoma

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16Gene Ontology
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Cellular components related to Subependymal Giant Cell Astrocytoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1TSC1-TSC2 complexGO:03359610.0TSC1, TSC2
2intermediate filamentGO:0058829.1VIM, NES, GFAP
3neuronal cell bodyGO:0430258.1TSC2, MAP2, SST, FABP7, S100B, CALB1
4cytosolGO:0058296.9CALB1, MTOR, GFAP, ENO2, TSC1, TSC2
5cytoplasmGO:0057376.7VIM, S100B, FABP7, NES, MTOR, MAP2

Biological processes related to Subependymal Giant Cell Astrocytoma according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell sizeGO:0457929.9TSC2, TSC1, MTOR
2regulation of protein kinase activityGO:0458599.9TSC1, MTOR
3Bergmann glial cell differentiationGO:0600209.9GFAP, VIM
4astrocyte developmentGO:0140029.8GFAP, VIM
5intermediate filament organizationGO:0451099.7VIM, GFAP
6positive regulation of protein oligomerizationGO:0324619.6TP53, CCK
7axonogenesisGO:0074099.6CCK, S100B, MAP2
8central nervous system neuron developmentGO:0219549.5MAP2, NPY
9positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.3TP53, MTOR, CCK
10cellular response to organic substanceGO:0713109.2MAP2, SYP, CALB1
11cellular response to hypoxiaGO:0714569.2TP53, MTOR, S100B
12central nervous system developmentGO:0074179.2TP53, NES, S100B
13negative regulation of cell proliferationGO:0082859.0FABP7, SST, TSC1, TSC2, TP53

Products for genes affiliated with Subependymal Giant Cell Astrocytoma

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Sources for Subependymal Giant Cell Astrocytoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet
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