MCID: BLS003
MIFTS: 54

Blastoma malady

Rare diseases, Cancer diseases categories
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Summaries for Blastoma

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Disease Ontology:8 A cell type cancer that has material basis in abnormally proliferating cells derived from precursor cells called blast cells.

MalaCards based summary: Blastoma is related to pulmonary blastoma and pleuropulmonary blastoma. An important gene associated with Blastoma is DICER1 (dicer 1, ribonuclease type III), and among its related pathways are G protein signaling K RAS regulation pathway and EGFR Transactivation by Gastrin. The compounds mucicarmine and crcs have been mentioned in the context of this disorder. Affiliated tissues include lung, pituitary and thyroid, and related mouse phenotypes are tumorigenesis and limbs/digits/tail.

Wikipedia:65 A blastoma is a type of cancer, more common in children, that is caused by malignancies in precursor... more...

Aliases & Classifications for Blastoma

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Blastoma, Aliases & Descriptions:

Name: Blastoma 8 42 62


Classifications:

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


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Disease Ontology8 DOID:0070003

Related Diseases for Blastoma

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Diseases related to Blastoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 148)
idRelated DiseaseScoreTop Affiliating Genes
1pulmonary blastoma32.6NKX2-1
2pleuropulmonary blastoma32.1TARBP2, XPO5, DICER1
3cystic nephroma31.4DICER1
4teratoma30.5GFAP, NKX2-1, CGB
5rhabdomyosarcoma30.1TP53, VIM, MYCN
6sarcoma29.7TP53, VIM, MYCN, KRAS, CGB
7retinoblastoma29.3GFAP, TP53, MYCN, SYP, KRAS, EGFR
8melanoma29.2TP53, SERPINA1, VIM, MYCN, NKX2-1, KRAS
9adenocarcinoma28.2TP53, SERPINA1, POU1F1, VIM, MYCN, SYP
10melanotic neuroectodermal tumor10.6SYP
11turcot syndrome10.5CTNNB1
12dysembryoplastic neuroepithelial tumor10.5SYP
13superior vena cava syndrome10.5CGB
14ovarian small cell carcinoma10.5TTF1
15cerebral primitive neuroectodermal tumor10.5MYCN
16granulosa cell tumor of the ovary10.5NKX2-1, CTNNB1
17gemistocytic astrocytoma10.5GFAP
18gliosarcoma10.5GFAP
19mixed glioma10.4GFAP
20neurilemmoma10.4GFAP
21benign mesothelioma10.4NKX2-1, TP53
22syringoma10.4GFAP
23gliomatosis cerebri10.4GFAP
24thymus cancer10.4SYP, NKX2-1
25adenomatoid tumor10.4VIM
26pneumothorax10.4
27acinar cell carcinoma10.4CTNNB1, SERPINA1
28merkel cell carcinoma10.4NKX2-1, SYP
29classic pulmonary blastoma10.4
30dicer1-related disorders10.4
31thyroid cancer, anaplastic10.4CTNNB1, NKX2-1, TP53
32ganglioneuroblastoma10.3MYCN, SYP
33pseudosarcomatous fibromatosis10.3CTNNB1, VIM
34subependymal giant cell astrocytoma10.3SYP, GFAP
35dicer1-related pleuropulmonary blastoma cancer predisposition syndrome10.3
36granular cell tumor10.3VIM, SYP
37tubular adenocarcinoma10.3CTNNB1, SYP
38pineoblastoma10.3GFAP, SYP
39paraganglioma10.3VIM, SYP
40ganglioglioma10.3GFAP, SYP
41pilocytic astrocytoma10.3SYP, GFAP
42binswanger's disease10.3GFAP, SYP
43papillary ependymoma10.3GFAP, SYP
44central neurocytoma10.3SYP, GFAP
45lynch syndrome10.3TP53, KRAS
46choroid plexus papilloma10.3SYP, GFAP
47sex cord-gonadal stromal tumor10.3VIM, NKX2-1
48gallbladder cancer10.3TP53, KRAS
49pineocytoma10.3GFAP, SYP
50sertoli cell tumor10.3VIM, SYP

Graphical network of the top 20 diseases related to Blastoma:



Diseases related to blastoma

Symptoms for Blastoma

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Drugs & Therapeutics for Blastoma

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Drug clinical trials:

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Genetic Tests for Blastoma

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Anatomical Context for Blastoma

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MalaCards organs/tissues related to Blastoma:

32
Lung, Pituitary, Thyroid, Fetal lung, Kidney, Lymph node, Brain, Ovary, Bronchial epithelium, Spinal cord, Liver, Testes

Animal Models for Blastoma or affiliated genes

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MGI Mouse Phenotypes related to Blastoma:

36 (show all 25)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.0TP53, DICER1, NKX2-1, KRAS, EGFR, CTNNB1
2MP:00053718.9TP53, MYCN, DICER1, KRAS, EGFR, CTNNB1
3MP:00011868.9TP53, KRAS, EGFR, CTNNB1
4MP:00053708.8TP53, MYCN, DICER1, KRAS, EGFR, CTNNB1
5MP:00053908.8CTNNB1, EGFR, NKX2-1, DICER1, MYCN, TP53
6MP:00030128.7TP53, MYCN, SYP, NKX2-1, EGFR, CTNNB1
7MP:00053678.7TP53, MYCN, DICER1, KRAS, EGFR, CTNNB1
8MP:00053828.7TP53, POU1F1, MYCN, DICER1, EGFR, CTNNB1
9MP:00053808.4TP53, VIM, MYCN, DICER1, KRAS, EGFR
10MP:00053798.4TP53, POU1F1, DICER1, NKX2-1, KRAS, EGFR
11MP:00053888.3TP53, VIM, MYCN, DICER1, NKX2-1, KRAS
12MP:00053818.3GFAP, TP53, MYCN, NKX2-1, KRAS, EGFR
13MP:00053918.1GFAP, TP53, VIM, MYCN, KRAS, EGFR
14MP:00053698.1GFAP, TP53, VIM, MYCN, KRAS, EGFR
15MP:00028738.1GFAP, TP53, MYCN, DICER1, SYP, KRAS
16MP:00053867.9GFAP, TP53, VIM, MYCN, DICER1, NKX2-1
17MP:00053977.9TP53, POU1F1, VIM, MYCN, DICER1, KRAS
18MP:00053857.7GFAP, TP53, VIM, MYCN, DICER1, NKX2-1
19MP:00053847.6GFAP, TP53, VIM, MYCN, DICER1, NKX2-1
20MP:00053877.3GFAP, TP53, POU1F1, VIM, DICER1, KRAS
21MP:00053767.2GFAP, TP53, POU1F1, VIM, MYCN, DICER1
22MP:00053897.0CTNNB1, TP53, POU1F1, VIM, MYCN, DICER1
23MP:00036316.9GFAP, TP53, POU1F1, VIM, MYCN, DICER1
24MP:00053786.4VIM, POU1F1, TP53, GFAP, MYCN, DICER1
25MP:00107686.4GFAP, TP53, POU1F1, VIM, MYCN, DICER1

Publications for Blastoma

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Articles related to Blastoma:

(show top 50)    (show all 357)
idTitleAuthorsYear
1
An unusual case of pleuropulmonary blastoma in a child with jejunal hamartomas. (23970988)
2013
2
Germ-line and somatic DICER1 mutations in a pleuropulmonary blastoma. (23868280)
2013
3
Adult biphasic pulmonary blastoma. (23427368)
2013
4
18F-FDG PET/CT appearances of adult pulmonary blastoma. (23751833)
2013
5
Pleuropulmonary Blastoma: A Case Report. (24101356)
2013
6
Translocation t(12;17)(q24.1;q21) as the sole anomaly in a nasal chondromesenchymal hamartoma arising in a patient with pleuropulmonary blastoma. (22356457)
2012
7
Expression and mutation analysis of EGFR, c-KIT, and I^-catenin in pulmonary blastoma. (21292787)
2011
8
Pulmonary blastoma with yolk sac elements. (21045461)
2010
9
Interaction and self-organization of human mesenchymal stem cells and neuro-blastoma SH-SY5Y cells under co-culture conditions: A novel system for modeling cancer cell micro-environment. (20685331)
2010
10
Is congenital cystic adenomatoid malformation a premalignant lesion for pleuropulmonary blastoma? (20620300)
2010
11
Pulmonary blastoma in a neonate: a lesion distinct from pleuropulmonary blastoma with unique cytogenetic features. (19902198)
2010
12
Pulmonary blastoma metastatic to the ovary. (19047906)
2009
13
A familial case of pleuropulmonary blastoma. (18493897)
2008
14
Gain of chromosome 8q is a frequent finding in pleuropulmonary blastoma. (17873899)
2007
15
Pleuropulmonary blastoma, a distinctive neoplasm of childhood: report of three cases. (17285284)
2007
16
Correction: Pleuropulmonary blastoma, not rhabdomyosarcoma in a congenital lung cyst. (16856157)
2007
17
Combined small cell carcinoma with pulmonary blastoma and adenocarcinoma: case report and clonality analysis. (17046168)
2006
18
Type II pleuropulmonary blastoma responsive to multimodal therapy. (15770834)
2005
19
Critical presentation of pleuropulmonary blastoma. (15756566)
2005
20
A rare case of classic biphasic pulmonary blastoma. (16447486)
2005
21
Pleuropulmonary blastoma--case report of a patient presenting in a moribund state. (14768144)
2003
22
P53 gene mutations in pleuropulmonary blastomas. (11881786)
2002
23
Pulmonary blastoma. (11563261)
2001
24
Pleuropulmonary blastoma: an aggressive intrathoracic neoplasm of childhood. (11400650)
2001
25
Pulmonary blastoma: report of two cases. (11381509)
2001
26
Aggressive multimodal treatment of pleuropulmonary blastoma. (11565696)
2001
27
Extension of a pulmonary blastoma into the left atrium. (11393507)
2001
28
Pleuropulmonary blastoma in an adult: an initial case report. (10357407)
1999
29
Pulmonary blastoma: report of a case. (10483763)
1999
30
Pulmonary blastoma: diagnostic and therapeutic aspects. (10415291)
1999
31
Comparative structural study of the glial blastomas of the central nervous system]. (10668265)
1999
32
Case of extra pulmonary, pleuro-pulmonary blastoma in a child: pathological and cytogenetic findings. (9142208)
1997
33
Pleuropulmonary blastoma: a marker for familial disease. (8636815)
1996
34
Pulmonary blastoma presenting as a solitary lip metastasis: case report and review of the literature. (7552426)
1995
35
Pulmonary blastoma in an adult presenting as a chronic loculated effusion: a diagnostic problem. (8091334)
1994
36
Pulmonary blastoma--a case and review of literature. (8613168)
1994
37
Childhood pulmonary blastoma: a pleuropulmonary variant of the adult-type pulmonary blastoma. (1720893)
1991
38
Pulmonary blastoma with neuroendocrine differentiation in cell morules resembling neuroepithelial bodies. (2124206)
1990
39
Role of chemotherapy in pediatric pulmonary blastoma. (2152957)
1990
40
Pulmonary blastoma--report of a case. (2848950)
1988
41
Computed tomography of pulmonary blastoma in a child. (2991998)
1985
42
Pulmonary blastoma. An ultrastructural study of a case and its transplanted tumor in athymic nude mice. (7417940)
1980
43
Chromosome analysis in a human hepato-blastoma cell line producing alpha-fetoprotein. (6161524)
1980
44
Pulmonary blastoma. (158135)
1979
45
Pulmonary blastoma. (199865)
1977
46
Pulmonary blastoma: A light and electron microscopic study. (974996)
1976
47
Pulmonary blastoma: report of two cases. (1126201)
1975
48
Pulmonary blastoma. (4364385)
1974
49
Pulmonary blastoma. (4355012)
1973
50
Pulmonary blastoma with diverse mesenchymal proliferation. (5075621)
1972

Variations for Blastoma

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Expression for genes affiliated with Blastoma

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Expression patterns in normal tissues for genes affiliated with Blastoma

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Pathways for genes affiliated with Blastoma

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Pathways related to Blastoma according to GeneCards/GeneDecks:

(show all 29)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6EGFR, KRAS
2
Show member pathways
EGFR-dependent Endothelin signaling events37
9.6EGFR, KRAS
39.6KRAS, EGFR
4
Show member pathways
9.6TP53, KRAS, CTNNB1
59.6TP53, KRAS, CTNNB1
69.6TP53, KRAS, CTNNB1
79.5TP53, EGFR, CTNNB1
89.5CTNNB1, EGFR, TP53
99.5CTNNB1, EGFR, TP53
109.5CTNNB1, EGFR, TP53
119.4TARBP2, DICER1
12
Show member pathways
9.4CTNNB1, EGFR, KRAS
13
Show member pathways
Development EGFR signaling via PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor37
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
9.4EGFR, KRAS, TP53
14
Show member pathways
ErbB receptor signaling network37
ErbB signaling pathway37
9.4EGFR, KRAS, TP53
159.4EGFR, KRAS, TP53
169.4TP53, KRAS, EGFR
17
Show member pathways
9.4TP53, KRAS, EGFR
189.3NKX2-1, SYP, GFAP
199.2CTNNB1, EGFR, KRAS, TP53
209.2TP53, KRAS, EGFR, CTNNB1
21
Show member pathways
9.2TP53, KRAS, EGFR, CTNNB1
22
Show member pathways
Signal transduction PTEN pathway60
9.2TP53, KRAS, EGFR, CTNNB1
23
Show member pathways
Signaling Pathways in Glioblastoma37
9.2TP53, KRAS, EGFR, CTNNB1
249.2TP53, KRAS, EGFR, CTNNB1
259.2TP53, KRAS, EGFR, CTNNB1
26
Show member pathways
9.1TARBP2, XPO5, DICER1
278.8EGFR, KRAS, DICER1, VIM, TP53
288.7GFAP, TP53, VIM, EGFR
29
Show member pathways
8.5GFAP, TP53, VIM, EGFR, CTNNB1

Compounds for genes affiliated with Blastoma

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Compounds related to Blastoma according to GeneCards/GeneDecks:

(show top 50)    (show all 102)
idCompoundScoreTop Affiliating Genes
1mucicarmine449.9VIM, NKX2-1, SYP
2crcs449.8KRAS, CTNNB1, TP53
3b 723449.8NKX2-1, VIM, SYP
4temozolomide44 1110.7EGFR, VIM, TP53
5cetuximab44 50 1111.7CTNNB1, KRAS, EGFR
6adriamycin449.6MYCN, TP53, VIM, CTNNB1
7vincristine44 50 1111.6CGB, VIM, TP53, MYCN
8s 100449.6VIM, SYP, GFAP
9reticulin449.6SYP, VIM, GFAP
10mg 13244 6110.5EGFR, MYCN, TP53, CTNNB1
11dutp449.5TP53, SYP, GFAP
12bcnu449.5EGFR, TP53, GFAP
13gefitinib44 50 1111.4CTNNB1, KRAS, EGFR, VIM
14etoposide44 50 61 1112.4VIM, CGB, SYP, MYCN, TP53
15hematoxylin449.4GFAP, VIM, SYP, NKX2-1
16gnrh449.3VIM, NKX2-1, CGB, CTNNB1
17dbc-amp449.3MYCN, VIM, GFAP, SYP
18retinoid449.2CTNNB1, TP53, VIM, MYCN, EGFR
19bromodeoxyuridine449.2GFAP, CTNNB1, MYCN, VIM
20formaldehyde44 2410.2VIM, SYP, NKX2-1, GFAP
21doxorubicin44 50 1111.2EGFR, VIM, MYCN, CTNNB1, TP53
225fluorouracil449.2TP53, KRAS, EGFR, CTNNB1
23leucovorin44 50 1111.1CGB, KRAS, EGFR
24butyrate449.0TP53, VIM, KRAS, CTNNB1, GFAP
25h2o2448.9KRAS, TP53, SERPINA1, VIM, SYP, CTNNB1
26agar448.9VIM, MYCN, CTNNB1, GFAP, EGFR
27acth448.8POU1F1, SERPINA1, GFAP, SYP
28phosphoinositide448.8KRAS, CTNNB1, VIM, POU1F1, EGFR
29forskolin44 50 1110.7POU1F1, SYP, VIM, GFAP, NKX2-1
30dopamine44 28 24 1111.7GFAP, MYCN, POU1F1, CTNNB1, SYP
31creatinine448.7CGB, SYP, VIM, SERPINA1, GFAP
32thymidine44 249.7POU1F1, GFAP, TP53, CTNNB1, SERPINA1
33glutamine448.7GFAP, CTNNB1, SYP, VIM, POU1F1
34cycloheximide448.6MYCN, EGFR, CTNNB1, TP53, GFAP, VIM
35genistein44 28 61 2 24 1113.6GFAP, EGFR, CTNNB1, MYCN, SYP, VIM
36testosterone44 61 24 1111.6EGFR, CTNNB1, CGB, SYP, VIM, GFAP
37cyclic amp44 249.6GFAP, POU1F1, VIM, SYP, NKX2-1, CGB
38paclitaxel44 50 1110.6GFAP, TP53, VIM, KRAS, EGFR, CTNNB1
39dexamethasone44 50 28 1111.5CTNNB1, NKX2-1, POU1F1, VIM, GFAP, SYP
40leucine448.4VIM, GFAP, MYCN, POU1F1, SYP
41oligonucleotide448.2CTNNB1, TP53, SERPINA1, POU1F1, VIM, MYCN
42cysteine448.2SYP, CTNNB1, CGB, SERPINA1, GFAP, VIM
43cisplatin44 50 61 1111.1GFAP, CGB, CTNNB1, EGFR, KRAS, SYP
44vegf447.7CGB, GFAP, TP53, VIM, MYCN, SYP
45tyrosine447.5NKX2-1, CTNNB1, SYP, MYCN, EGFR, POU1F1
46paraffin447.4TP53, KRAS, SERPINA1, VIM, MYCN, SYP
47serine447.4GFAP, MYCN, SYP, SERPINA1, VIM, NKX2-1
48progesterone44 28 61 24 1111.3SYP, GFAP, NKX2-1, EGFR, CTNNB1, CGB
49retinoic acid44 248.2GFAP, TP53, POU1F1, VIM, MYCN, SYP
50estrogen446.9TP53, GFAP, SERPINA1, POU1F1, VIM, SYP

GO Terms for genes affiliated with Blastoma

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Cellular components related to Blastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RISC complexGO:0164429.4TARBP2, DICER1
2nucleoplasmGO:0056548.9CTNNB1, XPO5, NKX2-1, TP53, TTF1
3cytosolGO:0058297.5GFAP, TP53, VIM, DICER1, XPO5, TARBP2
4nucleusGO:0056346.5TTF1, TP53, POU1F1, MYCN, NKX2-1, XPO5
5cytoplasmGO:0057376.4CTNNB1, GFAP, TTF1, TP53, POU1F1, VIM

Biological processes related to Blastoma according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1epithelial tube branching involved in lung morphogenesisGO:06044110.2NKX2-1, CTNNB1
2negative regulation of reactive oxygen species metabolic processGO:200037810.2TP53, MYCN
3cerebral cortex cell migrationGO:02179510.1EGFR, NKX2-1
4regulation of long-term neuronal synaptic plasticityGO:04816910.0KRAS, SYP
5branching morphogenesis of an epithelial tubeGO:04875410.0MYCN, DICER1
6determination of adult lifespanGO:0083409.9POU1F1, TP53
7hair follicle morphogenesisGO:0310699.9DICER1, CTNNB1
8cell fate specificationGO:0017089.9CTNNB1, POU1F1
9Bergmann glial cell differentiationGO:0600209.8GFAP, VIM
10negative regulation of DNA replicationGO:0081569.8TP53, TTF1
11targeting of mRNA for destruction involved in RNA interferenceGO:0304239.8DICER1, TARBP2
12production of siRNA involved in RNA interferenceGO:0304229.7DICER1, TARBP2
13pre-miRNA processingGO:0310549.7TARBP2, DICER1
14astrocyte developmentGO:0140029.7VIM, GFAP
15intermediate filament organizationGO:0451099.7VIM, GFAP
16lung developmentGO:0303249.6MYCN, DICER1, NKX2-1, EGFR
17positive regulation of transcription, DNA-templatedGO:0458939.3TP53, POU1F1, NKX2-1, CTNNB1
18negative regulation of transcription from RNA polymerase II promoterGO:0001229.3TP53, POU1F1, DICER1, NKX2-1, CTNNB1
19apoptotic processGO:0069159.3CGB, CTNNB1, VIM, TP53
20negative regulation of neuron projection developmentGO:0109779.1VIM, GFAP
21positive regulation of transcription from RNA polymerase II promoterGO:0459448.6CTNNB1, EGFR, NKX2-1, DICER1, MYCN, POU1F1

Molecular functions related to Blastoma according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1protein phosphatase bindingGO:0199039.6CTNNB1, EGFR, TP53
2protein complex bindingGO:0324039.6CTNNB1, KRAS, SYP
3transcription regulatory region DNA bindingGO:0442129.5TP53, NKX2-1, CTNNB1
4miRNA bindingGO:0351989.4DICER1, TARBP2
5double-stranded RNA bindingGO:0037259.1VIM, DICER1, TARBP2
6identical protein bindingGO:0428028.9TP53, SERPINA1, VIM, SYP, EGFR
7sequence-specific DNA binding transcription factor activityGO:0037008.8CTNNB1, NKX2-1, MYCN, POU1F1, TP53
8chromatin bindingGO:0036828.7CTNNB1, EGFR, POU1F1, TP53, TTF1
9protein bindingGO:0055156.6TP53, SERPINA1, VIM, MYCN, DICER1, NKX2-1

Products for genes affiliated with Blastoma

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Sources for Blastoma

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet