MCID: PLM032
MIFTS: 61

Pulmonary Blastoma malady

Respiratory diseases, Cancer diseases, Rare diseases categories

Summaries for Pulmonary Blastoma

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Disease Ontology:9 An embryoma and malignant neoplasm of lung that derives from tissues of the lung and derives from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). it is most commonly effects children.

MalaCards based summary: Pulmonary Blastoma, also known as blastoma of lung, is related to sarcoma and melanoma, and has symptoms including hemoptysis, neoplasm of the lung and chest pain. An important gene associated with Pulmonary Blastoma is NKX2-1 (NK2 homeobox 1), and among its related pathways are Apoptotic cleavage of cellular proteins and Cell adhesion Endothelial cell contacts by junctional mechanisms. The compounds s 100 and panitumumab have been mentioned in the context of this disorder. Affiliated tissues include lung, fetal lung and brain, and related mouse phenotypes are pigmentation and limbs/digits/tail.

Wikipedia:64 Pleuropulmonary blastoma (PPB) is a rare cancer originating in the lung or pleural cavity. It occurs... more...

Aliases & Classifications for Pulmonary Blastoma

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Sources:
9Disease Ontology, 44Novoseek, 48Orphanet, 61UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Pulmonary Blastoma, Aliases & Descriptions:

Name: Pulmonary Blastoma 9 44 48 61
Blastoma of Lung 9 61
 
Pneumoblastoma 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
pulmonary blastoma:
Inheritance: Multigenic/multifactorial; Age of onset: Adulthood; Age of death: Adult


External Ids:

Disease Ontology9 DOID:4765
NCIt39 C3732
MeSH34 D018202
SNOMED-CT56 189815007, 43149009
MESH via Orphanet35 D018202
ICD10 via Orphanet27 C34
UMLS via Orphanet62 C0206629

Related Diseases for Pulmonary Blastoma

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

(show top 50)    (show all 104)
idRelated DiseaseScoreTop Affiliating Genes
1sarcoma29.8CGB, KRAS, VIM, TP53
2melanoma29.4TP53, VIM, NKX2-1, KRAS, CTNNB1, CGB
3adenocarcinoma28.8TP53, VIM, SYP, NKX2-1, KRAS, EGFR
4blastoma11.3
5pleuropulmonary blastoma10.6
6classic pulmonary blastoma10.5
7turcot syndrome10.5CTNNB1
8ovarian small cell carcinoma10.5TTF1
9superior vena cava syndrome10.5CGB
10subependymal giant cell astrocytoma10.5SYP
11melanotic neuroectodermal tumor10.5SYP
12pineoblastoma10.5SYP
13dysembryoplastic neuroepithelial tumor10.4SYP
14choroid plexus papilloma10.4TP53
15pilocytic astrocytoma10.4SYP
16granulosa cell tumor of the ovary10.4NKX2-1, CTNNB1
17adenomatoid tumor10.4VIM
18epithelial predominant pulmonary blastoma10.3
19giant cell glioblastoma10.3EGFR
20thymus cancer10.3SYP, NKX2-1
21merkel cell carcinoma10.3NKX2-1, SYP
22benign mesothelioma10.3TP53, NKX2-1
23tubular adenocarcinoma10.3SYP, CTNNB1
24teratoma10.3CGB, NKX2-1
25neuroendocrine carcinoma10.3SYP, NKX2-1
26embryoma10.3
27spindle cell carcinoma10.3
28pneumothorax10.3
29pseudosarcomatous fibromatosis10.3CTNNB1, VIM
30nephroblastoma10.2CTNNB1, TP53
31sex cord-gonadal stromal tumor10.2VIM, NKX2-1
32fibromatosis10.2VIM, CTNNB1
33paraganglioma10.2VIM, SYP
34abrikosov's tumor10.2VIM, NKX2-1
35adrenal cortical adenoma10.2CTNNB1, SYP
36meningioma10.2VIM, SYP
37sertoli cell tumor10.2SYP, VIM
38granular cell tumor10.2VIM, SYP
39gallbladder cancer10.2KRAS, TP53
40lynch syndrome10.2KRAS, TP53
41rhabdoid tumor10.2SYP, VIM
42thyroid cancer, anaplastic10.2CTNNB1, NKX2-1, TP53
43synovial sarcoma10.2VIM, CTNNB1
44neurofibroma10.1VIM, SYP
45adrenocortical carcinoma10.1TP53, SYP
46oxyphilic adenoma10.1VIM, SYP
47adenosquamous carcinoma10.1NKX2-1, EGFR
48interstitial lung disease10.1NKX2-1, EGFR
49testicular cancer10.1CGB, KRAS
50bronchitis10.1

Graphical network of the top 20 diseases related to Pulmonary Blastoma:



Diseases related to pulmonary blastoma

Symptoms for Pulmonary Blastoma

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Symptoms:

 48 (show all 10)
  • radiologic lung abnormalities/changes
  • thoracic/chest pain
  • cough
  • hemoptysis
  • lung/bronchopulmonary neoplasm/tumor/carcinoma/cancer
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • repeat respiratory infections
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • fever/chilling
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax

HPO human phenotypes related to Pulmonary Blastoma:

(show all 8)
id Description Frequency HPO Source Accession
1 hemoptysis hallmark (90%) HP:0002105
2 neoplasm of the lung hallmark (90%) HP:0100526
3 chest pain hallmark (90%) HP:0100749
4 weight loss typical (50%) HP:0001824
5 respiratory insufficiency typical (50%) HP:0002093
6 recurrent respiratory infections typical (50%) HP:0002205
7 abnormality of temperature regulation typical (50%) HP:0004370
8 abnormality of the pleura occasional (7.5%) HP:0002103

Drugs & Therapeutics for Pulmonary Blastoma

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Drug clinical trials:

Search ClinicalTrials for Pulmonary Blastoma

Search NIH Clinical Center for Pulmonary Blastoma

Genetic Tests for Pulmonary Blastoma

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Anatomical Context for Pulmonary Blastoma

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MalaCards organs/tissues related to Pulmonary Blastoma:

32
Lung, Fetal lung, Brain, Bronchial epithelium, Lymph node, Liver, Thyroid, Ovary

Animal Models for Pulmonary Blastoma or affiliated genes

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MGI Mouse Phenotypes related to Pulmonary Blastoma:

36 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.5TP53, KRAS, EGFR, CTNNB1
2MP:00053718.3TP53, KRAS, EGFR, CTNNB1
3MP:00030128.2TP53, SYP, NKX2-1, EGFR, CTNNB1
4MP:00020068.2TP53, NKX2-1, KRAS, EGFR, CTNNB1
5MP:00053708.2CTNNB1, EGFR, KRAS, TP53
6MP:00053818.2CTNNB1, EGFR, KRAS, NKX2-1, TP53
7MP:00053798.1TP53, NKX2-1, KRAS, EGFR, CTNNB1
8MP:00053678.1TP53, KRAS, EGFR, CTNNB1
9MP:00028738.0TP53, SYP, KRAS, EGFR, CTNNB1
10MP:00053918.0TP53, VIM, KRAS, EGFR, CTNNB1
11MP:00053698.0TP53, VIM, KRAS, EGFR, CTNNB1
12MP:00053807.9CTNNB1, EGFR, KRAS, VIM, TP53
13MP:00053887.7CTNNB1, EGFR, KRAS, NKX2-1, VIM, TP53
14MP:00053977.7CTNNB1, EGFR, KRAS, VIM, TP53
15MP:00053897.7TP53, VIM, NKX2-1, KRAS, EGFR, CTNNB1
16MP:00053857.7TP53, VIM, NKX2-1, KRAS, EGFR, CTNNB1
17MP:00053847.6TP53, VIM, NKX2-1, KRAS, EGFR, CTNNB1
18MP:00053787.5TP53, VIM, NKX2-1, KRAS, EGFR, CTNNB1
19MP:00053767.5TP53, VIM, NKX2-1, KRAS, EGFR, CTNNB1
20MP:00036317.3TP53, VIM, SYP, NKX2-1, KRAS, EGFR
21MP:00107687.1TP53, VIM, NKX2-1, KRAS, EGFR, CTNNB1

Publications for Pulmonary Blastoma

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Articles related to Pulmonary Blastoma:

(show top 50)    (show all 192)
idTitleAuthorsYear
1
Adult biphasic pulmonary blastoma. (23427368)
2013
2
18F-FDG PET/CT appearances of adult pulmonary blastoma. (23751833)
2013
3
Expression and mutation analysis of EGFR, c-KIT, and I^-catenin in pulmonary blastoma. (21292787)
2011
4
Pulmonary blastoma with yolk sac elements. (21045461)
2010
5
Pulmonary blastoma in a neonate: a lesion distinct from pleuropulmonary blastoma with unique cytogenetic features. (19902198)
2010
6
A rare association; pulmonary blastoma developing on extrapulmonary sequestration basis. (20395246)
2010
7
Pulmonary blastoma metastatic to the ovary. (19047906)
2009
8
Clinical, pathological and immunohistochemical features of a pulmonary blastoma in a horse. (19202177)
2009
9
Biphasic pulmonary blastoma with rapid progression. (19214452)
2009
10
Pulmonary blastoma. (17686364)
2007
11
Combined small cell carcinoma with pulmonary blastoma and adenocarcinoma: case report and clonality analysis. (17046168)
2006
12
Survival of biphasic pulmonary blastoma. (16332433)
2006
13
Solitary brain metastasis from classic biphasic pulmonary blastoma: a case report and review of the literature. (17202827)
2006
14
A rare case of classic biphasic pulmonary blastoma. (16447486)
2005
15
Cyopathologic and histologic features of biphasic pulmonary blastoma: a case report. (15717762)
2005
16
Biphasic pulmonary blastoma presenting as endobronchial polyp with a long stalk. (15942110)
2005
17
Pulmonary blastoma. (11563261)
2001
18
Pulmonary blastoma: report of two cases. (11381509)
2001
19
Extension of a pulmonary blastoma into the left atrium. (11393507)
2001
20
Pulmonary blastoma: report of a case. (10483763)
1999
21
Pulmonary blastoma: diagnostic and therapeutic aspects. (10415291)
1999
22
Case of extra pulmonary, pleuro-pulmonary blastoma in a child: pathological and cytogenetic findings. (9142208)
1997
23
Pulmonary blastoma. (9255019)
1997
24
Resection and adjuvant chemotherapy of pulmonary blastoma. A case report. (8697409)
1996
25
p53 and MDM2 immunostaining in pulmonary blastomas and bronchogenic carcinomas. (8666362)
1996
26
Pulmonary blastoma presenting as a solitary lip metastasis: case report and review of the literature. (7552426)
1995
27
Resection and adjuvant chemotherapy of pulmonary blastoma: a case report. (8635054)
1995
28
Pulmonary blastoma in an adult presenting as a chronic loculated effusion: a diagnostic problem. (8091334)
1994
29
Pulmonary blastoma--a case and review of literature. (8613168)
1994
30
Pleuropulmonary blastoma (pulmonary blastoma of childhood): genetic link with other embryonal malignancies? (8063284)
1994
31
Pulmonary blastoma: a rare case of childhood malignancy. (1323822)
1992
32
Childhood pulmonary blastoma: a pleuropulmonary variant of the adult-type pulmonary blastoma. (1720893)
1991
33
Pulmonary blastoma with a topographic transition from blastic to more differentiated areas. An immunohistochemical assessment of its embryonic nature using stage-specific embryonic antigens. (1661048)
1991
34
Pulmonary blastoma with neuroendocrine differentiation in cell morules resembling neuroepithelial bodies. (2124206)
1990
35
Role of chemotherapy in pediatric pulmonary blastoma. (2152957)
1990
36
Pulmonary blastoma. (2176642)
1990
37
Pulmonary blastoma--report of a case. (2848950)
1988
38
Computed tomography of pulmonary blastoma in a child. (2991998)
1985
39
Pulmonary blastoma associated with cystic lung disease. (6895712)
1982
40
Pulmonary blastoma. An ultrastructural study of a case and its transplanted tumor in athymic nude mice. (7417940)
1980
41
Pulmonary blastoma. (158135)
1979
42
Cytopathologic findings in pulmonary blastoma. (295162)
1979
43
Pulmonary blastoma. (199865)
1977
44
Pulmonary blastoma: A light and electron microscopic study. (974996)
1976
45
Pulmonary blastoma: report of two cases. (1126201)
1975
46
Pulmonary blastoma. (4364385)
1974
47
Pulmonary blastoma. A case report and review of the literature. (4811746)
1974
48
Pulmonary blastoma. (4355012)
1973
49
Pulmonary blastoma with diverse mesenchymal proliferation. (5075621)
1972
50
Pulmonary blastoma with diverse metastases. (5351776)
1969

Variations for Pulmonary Blastoma

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Expression for genes affiliated with Pulmonary Blastoma

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Expression patterns in normal tissues for genes affiliated with Pulmonary Blastoma

Search GEO for disease gene expression data for Pulmonary Blastoma.

Pathways for genes affiliated with Pulmonary Blastoma

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Pathways related to Pulmonary Blastoma according to GeneCards/GeneDecks:

(show all 39)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6CTNNB1, VIM
29.6CTNNB1, VIM
39.5CTNNB1, EGFR
49.4KRAS, EGFR
59.4KRAS, EGFR
6
Show member pathways
9.4EGFR, KRAS
7
Show member pathways
EGFR-dependent Endothelin signaling events37
9.4EGFR, KRAS
89.3CTNNB1, TP53
99.3CGB, TP53
10
Show member pathways
9.1EGFR, KRAS, CTNNB1
11
Show member pathways
9.1KRAS, EGFR, CTNNB1
12
Show member pathways
Cytoskeleton remodeling FAK signaling59
Development Endothelin 1 EDNRA transactivation of EGFR59
9.1CTNNB1, EGFR, KRAS
13
Show member pathways
9.1KRAS, CTNNB1, EGFR
148.9CTNNB1, KRAS, TP53
158.9CTNNB1, KRAS, TP53
16
Show member pathways
8.9TP53, CTNNB1, KRAS
178.9KRAS, TP53, CTNNB1
188.8CTNNB1, VIM, TP53
198.7CTNNB1, EGFR, TP53
208.7CTNNB1, EGFR, TP53
218.7EGFR, TP53, CTNNB1
228.7EGFR, CTNNB1, TP53
23
Show member pathways
Development EGFR signaling via PIP359
Development PDGF signaling via MAPK cascades59
Apoptosis and survival Anti apoptotic action of membrane bound ESR159
Signaling of Hepatocyte Growth Factor Receptor37
Development EGFR signaling via small GTPases59
Development Neurotrophin family signaling59
Apoptosis and survival NGF signaling pathway59
Apoptosis and survival Role of CDK5 in neuronal death and survival59
8.6KRAS, TP53, EGFR
24
Show member pathways
8.6TP53, EGFR, KRAS
258.6KRAS, EGFR, TP53
268.6TP53, EGFR, KRAS
27
Show member pathways
MAPK signaling pathway37
8.6TP53, EGFR, KRAS
28
Show member pathways
ErbB receptor signaling network37
ErbB signaling pathway37
8.6EGFR, KRAS, TP53
298.6EGFR, KRAS, TP53
308.5TP53, VIM, EGFR
31
Show member pathways
Signaling Pathways in Glioblastoma37
8.2CTNNB1, TP53, KRAS, EGFR
328.2TP53, KRAS, EGFR, CTNNB1
33
Show member pathways
8.2TP53, KRAS, EGFR, CTNNB1
348.2EGFR, TP53, KRAS, CTNNB1
35
Show member pathways
Signal transduction PTEN pathway59
8.2KRAS, EGFR, CTNNB1, TP53
368.2TP53, EGFR, CTNNB1, KRAS
378.2TP53, EGFR, CTNNB1, KRAS
38
Show member pathways
8.2EGFR, VIM, CTNNB1, TP53
398.1EGFR, KRAS, VIM, TP53

Compounds for genes affiliated with Pulmonary Blastoma

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Compounds related to Pulmonary Blastoma according to GeneCards/GeneDecks:

(show top 50)    (show all 92)
idCompoundScoreTop Affiliating Genes
1s 100449.7VIM, SYP
2panitumumab44 50 1211.7KRAS, EGFR
3mucicarmine449.7NKX2-1, SYP, VIM
4b 723449.6SYP, VIM, NKX2-1
5hematoxylin449.6NKX2-1, SYP, VIM
6cetuximab44 50 1211.5CTNNB1, EGFR, KRAS
7leucovorin44 50 1211.4CGB, EGFR, KRAS
8gnrh449.3CGB, CTNNB1, NKX2-1, VIM
94-hydroxytamoxifen449.3CTNNB1, VIM, EGFR
10crcs449.3TP53, CTNNB1, KRAS
11bleomycin44 1210.2CTNNB1, CGB, TP53
12roscovitine449.2CTNNB1, VIM, TP53
13imatinib44 50 1211.1EGFR, CTNNB1, KRAS
14nocodazole44 1210.0VIM, CTNNB1, TP53
15gefitinib44 50 1211.0KRAS, EGFR, CTNNB1, VIM
16cyclic amp44 2510.0SYP, NKX2-1, CGB, VIM
17vincristine44 50 1211.0TP53, CGB, VIM
18adpribose449.0TP53, EGFR, CTNNB1
19geldanamycin44 50 60 1211.9EGFR, TP53, CTNNB1
20oxaliplatin44 50 1210.9KRAS, EGFR, TP53
21temozolomide44 129.9TP53, EGFR, VIM
22adriamycin448.9CTNNB1, TP53, VIM
23formaldehyde44 259.9VIM, SYP, NKX2-1
24rapamycin448.9VIM, KRAS, EGFR, CTNNB1
25irinotecan44 50 1210.9EGFR, KRAS, TP53
26genistein44 29 60 3 25 1213.9VIM, SYP, EGFR, CTNNB1
27phosphoinositide448.9VIM, KRAS, EGFR, CTNNB1
28egcg448.8CTNNB1, EGFR, TP53
29etoposide44 50 60 1211.7SYP, CGB, TP53, VIM
30thymidylate448.7EGFR, TP53, VIM
31butyrate448.7TP53, KRAS, CTNNB1, VIM
325fluorouracil448.6KRAS, EGFR, CTNNB1, TP53
33testosterone44 60 25 1211.6EGFR, VIM, CGB, CTNNB1, SYP
34mg 13244 609.6EGFR, CTNNB1, TP53
35ly294002448.6EGFR, TP53, KRAS, CTNNB1
36retinoid448.6TP53, CTNNB1, EGFR, VIM
37sb 20358044 609.5EGFR, VIM, TP53, CTNNB1
38tamoxifen44 50 29 1211.5CTNNB1, EGFR, TP53, VIM
39doxorubicin44 50 1210.5CTNNB1, EGFR, VIM, TP53
40oligonucleotide448.4KRAS, TP53, VIM, NKX2-1, CTNNB1
41h2o2448.3SYP, CTNNB1, TP53, VIM, KRAS
42cycloheximide448.2CTNNB1, TP53, VIM, EGFR
43paclitaxel44 50 1210.1CTNNB1, TP53, VIM, KRAS, EGFR
44cisplatin44 50 60 1210.9EGFR, KRAS, SYP, CTNNB1, CGB, TP53
45progesterone44 29 60 25 1211.5TP53, VIM, CGB, EGFR, NKX2-1, CTNNB1
46paraffin447.4SYP, CTNNB1, EGFR, KRAS, NKX2-1, VIM
47retinoic acid44 258.4VIM, SYP, NKX2-1, KRAS, EGFR, CTNNB1
48serine447.4EGFR, TP53, SYP, CTNNB1, NKX2-1, KRAS
49vegf447.4TP53, CTNNB1, EGFR, KRAS, SYP, VIM
50estrogen447.1VIM, TP53, SYP, NKX2-1, KRAS, EGFR

GO Terms for genes affiliated with Pulmonary Blastoma

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Cellular components related to Pulmonary Blastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:0056548.5CTNNB1, NKX2-1, TP53, TTF1

Biological processes related to Pulmonary Blastoma according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1epithelial tube branching involved in lung morphogenesisGO:06044110.0CTNNB1, NKX2-1
2regulation of long-term neuronal synaptic plasticityGO:0481699.8KRAS, SYP
3cerebral cortex cell migrationGO:0217959.8EGFR, NKX2-1
4cellular component disassembly involved in execution phase of apoptosisGO:0069219.6CTNNB1, VIM
5T cell differentiation in thymusGO:0330779.4CTNNB1, TP53
6positive regulation of MAP kinase activityGO:0434069.3EGFR, KRAS
7negative regulation of DNA replicationGO:0081569.3TP53, TTF1
8axon guidanceGO:0074119.1NKX2-1, KRAS, EGFR
9cellular response to drugGO:0356908.7EGFR, TP53
10apoptotic processGO:0069158.6TP53, VIM, CTNNB1, CGB
11positive regulation of transcription from RNA polymerase II promoterGO:0459448.5TP53, NKX2-1, EGFR, CTNNB1

Molecular functions related to Pulmonary Blastoma according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1glycoprotein bindingGO:0019489.3VIM, EGFR
2protein complex bindingGO:0324039.3CTNNB1, KRAS, SYP
3transcription regulatory region DNA bindingGO:0442129.1NKX2-1, CTNNB1, TP53
4protein phosphatase bindingGO:0199038.9CTNNB1, TP53, EGFR
5enzyme bindingGO:0198998.6CTNNB1, EGFR, TP53
6protein kinase bindingGO:0199018.4CTNNB1, EGFR, TP53
7chromatin bindingGO:0036828.3EGFR, TP53, TTF1, CTNNB1
8identical protein bindingGO:0428028.2EGFR, SYP, VIM, TP53

Products for genes affiliated with Pulmonary Blastoma

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  • Antibodies
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  • Kits and Assays

Sources for Pulmonary Blastoma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet