MCID: PRN049
MIFTS: 50

Paraneoplastic Pemphigus malady

Skin diseases, Rare diseases categories
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Summaries for Paraneoplastic Pemphigus

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Wikipedia:65 Paraneoplastic pemphigus is an autoimmune disorder stemming from an underlying tumor. It is hypothesized... more...

MalaCards based summary: Paraneoplastic Pemphigus is related to follicular dendritic cell sarcoma and thymoma, and has symptoms including vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachmentand enanthema/aphtosa/aphta/leukoplakia. An important gene associated with Paraneoplastic Pemphigus is DSP (desmoplakin), and among its related pathways are Alpha6-Beta4 Integrin Signaling Pathway and Cell junction organization. The compounds dr-10 and asulam have been mentioned in the context of this disorder. Affiliated tissues include skin, b cells and lung, and related mouse phenotype integument.

Aliases & Classifications for Paraneoplastic Pemphigus

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Sources:
48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Paraneoplastic Pemphigus, Aliases & Descriptions:

Name: Paraneoplastic Pemphigus 48 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Skin diseases
Orphanet: 48 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

48
paraneoplastic pemphigus:
Inheritance: Sporadic; Prevalence: <1/1000000; Age of onset: Variable; Age of death: Any age


External Ids:

ICD10 via Orphanet26 L10.8
UMLS via Orphanet63 C1112570

Related Diseases for Paraneoplastic Pemphigus

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

(show top 50)    (show all 136)
idRelated DiseaseScoreTop Affiliating Genes
1follicular dendritic cell sarcoma31.8PPL
2thymoma31.4PPL, DSP, EVPL
3pemphigus vegetans31.4DSG1
4sarcoma31.3PPL, JUP, DSP, DSG1, EVPL
5lichen planus31.2DST, DSG3, COL17A1
6pemphigus31.2DSP, JUP, BLZF1, PPL, DST, DSG1
7mucous membrane pemphigoid31.0COL17A1
8b-cell lymphomas30.8HLA-B, BLZF1, C6orf25
9dermatitis30.8CD79A, DSG3, DSG1
10skin disease30.7HLA-DRB1
11hodgkin's lymphoma30.6BLZF1, HLA-A, HLA-B
12pemphigus vulgaris30.3DSG2, EVPL, DSG3, DSG1, PPL, HLA-DRB1
13thyroiditis30.2CD79A, HLA-DRB1, HLA-C
14pemphigus foliaceus30.2PPL, HLA-DRB1, DST, DSG1, DSG3, DSG2
15inflammatory bowel disease30.0HLA-B, HLA-DQB1, JUP, DSG2
16leukemia29.7HLA-B, HLA-A, HLA-C, HLA-DRB1, BLZF1, EVPL
17bullous pemphigoid29.6PPL, HLA-DQB1, BLZF1, DSP, DST, DSG1
18systemic lupus erythematosus29.5HLA-A, HLA-DQB1, HLA-DRB1, BLZF1, C6orf25, CD79A
19melanoma28.8HLA-B, HLA-A, HLA-C, HLA-DRB1, BLZF1, JUP
20castleman's disease10.7
21bronchiolitis10.7
22bronchiolitis obliterans10.7
23dendritic cell sarcoma10.7
24nonepidermolytic palmoplantar keratoderma10.6EVPL
25bullous impetigo10.5DSG1
26chronic lymphocytic leukemia10.5
27pemphigus erythematosus10.5DSP, DSG3
28junctional epidermolysis bullosa10.5COL17A1
29follicular lymphoma10.5
30myasthenia gravis10.5
31respiratory failure10.5
32hailey-hailey disease10.4DSP, JUP
33naxos disease10.4DSP, JUP
34keratosis10.4DSP, JUP
35keratoderma10.4DSG1, DSP
36cardiomyopathy dilated with woolly hair and keratoderma10.4JUP, DSP
37subcorneal pustular dermatosis10.4CD79A, DSG1
38mongolian spot10.4JUP, DSP
39herpes gestationis10.4COL17A1, DST
40junctional epidermolysis bullosa, non-herlitz type10.4DST, COL17A1
41mediastinitis10.3
42stomatitis10.3
43lichen planus pemphigoides10.3
44palmoplantar keratosis10.3JUP, DSP, DSG1
45brucellosis10.3CD79A, BLZF1
46epidermolysis bullosa10.3DSP, DST, COL17A1
47epidermolysis bullosa simplex10.3DST, COL17A1
48hepatocellular carcinoma10.3
49non-hodgkin lymphoma10.3
50inflammatory myofibroblastic tumor10.3

Graphical network of the top 20 diseases related to Paraneoplastic Pemphigus:



Diseases related to paraneoplastic pemphigus

Symptoms for Paraneoplastic Pemphigus

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Symptoms:

48
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • enanthema/aphtosa/aphta/leukoplakia

HPO human phenotypes related to Paraneoplastic Pemphigus:

id Description Frequency HPO Source Accession
1 abnormality of the oral cavity hallmark (90%) HP:0000163
2 abnormal blistering of the skin hallmark (90%) HP:0008066

Drugs & Therapeutics for Paraneoplastic Pemphigus

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Drug clinical trials:

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Search NIH Clinical Center for Paraneoplastic Pemphigus

Genetic Tests for Paraneoplastic Pemphigus

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Anatomical Context for Paraneoplastic Pemphigus

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MalaCards organs/tissues related to Paraneoplastic Pemphigus:

32
Skin, B cells, Lung, T cells, Testes, Bone, Bone marrow, Bronchial epithelium, Thyroid, Prostate, Tongue

Animal Models for Paraneoplastic Pemphigus or affiliated genes

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MGI Mouse Phenotypes related to Paraneoplastic Pemphigus:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.7EVPL, COL17A1, DSG3, DST, DSP, JUP

Publications for Paraneoplastic Pemphigus

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Articles related to Paraneoplastic Pemphigus:

(show top 50)    (show all 291)
idTitleAuthorsYear
1
Paraneoplastic pemphigus associated with primary pulmonar follicular dendritic cell sarcoma showing good response to treatment. (25388966)
2014
2
The importance of multidisciplinary healthcare for paraneoplastic pemphigus. (25257550)
2014
3
Detection of autoantibodies to periplakin and envoplakin in paraneoplastic pemphigus but not idiopathic pulmonary fibrosis using full-length recombinant proteins. (24275244)
2013
4
IgA pemphigus with paraneoplastic pemphigus-like clinical features showing IgA antibodies to desmoglein 1/3 and desmocollin 3, and IgG and IgA antibodies to the basement membrane zone. (23517469)
2013
5
Laboratory diagnosis of paraneoplastic pemphigus. (23796242)
2013
6
Interdigitating dendritic cell sarcoma complicated with paraneoplastic pemphigus after surgery of resection. (23652075)
2013
7
Paraneoplastic pemphigus: initial manifestation of lung cancer. (23670336)
2013
8
A case report of paraneoplastic pemphigus associated with esophageal squamous cell carcinoma. (23613673)
2013
9
Bronchiolitis obliterans presenting as prolonged ventilator dependence in a patient with paraneoplastic pemphigus. (22813514)
2012
10
Pathogenic anti-desmoglein 3 mAbs cloned from a paraneoplastic pemphigus patient by phage display. (22277944)
2012
11
Paraneoplastic pemphigus and Castleman's disease in the setting of herpes simplex virus infection. (22010956)
2012
12
Paraneoplastic pemphigus (paraneoplastic autoimmune multiorgan syndrome): clinical presentations and pathogenesis. (21605807)
2011
13
Improved outcomes after complete resection of underlying tumors for patients with paraneoplastic pemphigus: a single-center experience of 22 cases. (20390428)
2011
14
Paraneoplastic pemphigus with Castleman's disease and bronchiolitis obliterans. (22181577)
2011
15
Paraneoplastic pemphigus associated with corneal perforation and cutaneous alternariosis: a case report and review of cases treated with rituximab. (21434987)
2011
16
Paraneoplastic pemphigus associated with malignant gastrointestinal stromal tumour. (20107737)
2010
17
The protease inhibitor alpha-2-macroglobulin-like-1 is the p170 antigen recognized by paraneoplastic pemphigus autoantibodies in human. (20805888)
2010
18
Fatal paraneoplastic pemphigus associated with a mediastinal tumor. (19087213)
2009
19
A case of paraneoplastic pemphigus associated with Castleman's disease presenting as erosive lichen planus. (19663833)
2009
20
Detection and characterization of anti-envoplakin linker autoantibodies in paraneoplastic pemphigus using specific bead-based assay. (18790674)
2008
21
Paraneoplastic pemphigus. (17683379)
2007
22
Paraneoplastic pemphigus without an underlying neoplasm. (17300250)
2007
23
Paraneoplastic pemphigus associated with Castleman's disease: usefulness of the laboratory of autoimmunity in the diagnosis of this disease. (17804551)
2007
24
Paraneoplastic Pemphigus and Bronchiolitis Obliterans in a Patient with Splenic B-cell Lymphoma. (17908666)
2007
25
Inflammatory myofibroblastic tumor on intercostal nerve presenting as paraneoplastic pemphigus with fatal pulmonary involvement. (17728520)
2007
26
Paraneoplastic pemphigus in a dog with splenic sarcoma. (15657279)
2005
27
Paraneoplastic pemphigus associated with follicular dendritic cell sarcoma and Castleman disease. (16029358)
2005
28
Exacerbation of paraneoplastic pemphigus by cyclophosphamide treatment: detection of novel autoantigens and bronchial autoantibodies. (15149520)
2004
29
Paraneoplastic autoimmune multiorgan syndrome (paraneoplastic pemphigus) in a child: case report and review of the literature. (15466078)
2004
30
No involvement of IgG autoantibodies against extracellular domains of desmoglein 2 in paraneoplastic pemphigus or inflammatory bowel diseases. (12850306)
2003
31
Herpetiformis pemphigus and lung carcinoma: a case of paraneoplastic pemphigus. (12361141)
2002
32
Paraneoplastic pemphigus triggered by Castleman's disease. (11903261)
2002
33
Paraneoplastic pemphigus: a refractory autoimmune mucocutaneous disease. (12196890)
2002
34
Paraneoplastic pemphigus. (11589740)
2001
35
Paraneoplastic pemphigus. A report of two cases associated with chronic B-cell lymphocytic leukaemia. (11453921)
2001
36
Paraneoplastic pemphigus with circulating antibodies directed exclusively against the pemphigus vulgaris antigen desmoglein 3. (11004638)
2000
37
Paraneoplastic pemphigus in two patients with B-cell non-Hodgkin's lymphoma: significant responses to cyclophosphamide and prednisolone. (10629583)
2000
38
Periplakin and envoplakin are target antigens in canine and human paraneoplastic pemphigus. (10321593)
1999
39
Plectin serves as an autoantigen in paraneoplastic pemphigus. (10469345)
1999
40
Graft-versus-host disease-like immunophenotype and apoptotic keratinocyte death in paraneoplastic pemphigus. (10583130)
1999
41
Paraneoplastic pemphigus with fatal pulmonary involvement in a woman with a mesenteric Castleman tumour. (10233229)
1999
42
Antibodies against desmoglein 3 (pemphigus vulgaris antigen) are present in sera from patients with paraneoplastic pemphigus and cause acantholysis in vivo in neonatal mice. (9710446)
1998
43
Novel non-radioisotope immunoprecipitation studies indicate involvement of pemphigus vulgaris antigen in paraneoplastic pemphigus. (9673895)
1998
44
Childhood paraneoplastic pemphigus associated with Castleman's tumour. (9039308)
1997
45
cDNA cloning of the 210-kDa paraneoplastic pemphigus antigen reveals that envoplakin is a component of the antigen complex. (9284106)
1997
46
Paraneoplastic pemphigus: report of a case. (8708152)
1996
47
Lethal paraneoplastic pemphigus following treatment of chronic lymphocytic leukaemia with fludarabine. (8664199)
1995
48
Paraneoplastic pemphigus presenting as a lichen planus pemphigoides-like eruption. (8323308)
1993
49
Indirect immunofluorescence on rat bladder transitional epithelium: a test with high specificity for paraneoplastic pemphigus. (7684408)
1993
50
Human autoantibodies against desmoplakins in paraneoplastic pemphigus. (1601988)
1992

Variations for Paraneoplastic Pemphigus

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Expression for genes affiliated with Paraneoplastic Pemphigus

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Expression patterns in normal tissues for genes affiliated with Paraneoplastic Pemphigus

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Pathways for genes affiliated with Paraneoplastic Pemphigus

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Pathways related to Paraneoplastic Pemphigus according to GeneCards/GeneDecks:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8DSP, DST, COL17A1
2
Show member pathways
9.7COL17A1, DST, JUP
39.6DSG1, HLA-DRB1, HLA-DQB1
4
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy37
9.6DSG2, DSC2, DSP, JUP
5
Show member pathways
Immune response T cell receptor signaling pathway60
Immune response CD28 signaling60
Immune response ICOS pathway in T helper cell60
9.5HLA-DQB1, HLA-DRB1, CD79A
6
Show member pathways
9.5HLA-DQB1, HLA-C, HLA-A
7
Show member pathways
9.4HLA-B, HLA-A, HLA-C
8
Show member pathways
9.4HLA-B, HLA-A, HLA-C
99.4HLA-B, HLA-A, HLA-C
109.3EVPL, DST, DSP, PPL
11
Show member pathways
9.2DSP, DSG1, DSG3, DSG2
128.7HLA-DRB1, HLA-C, HLA-DQB1, HLA-A, HLA-B
138.7HLA-DRB1, HLA-C, HLA-DQB1, HLA-A, HLA-B
148.7HLA-B, HLA-A, HLA-DQB1, HLA-C, HLA-DRB1
15
Show member pathways
8.7HLA-B, HLA-A, HLA-DQB1, HLA-C, HLA-DRB1
16
Show member pathways
8.7HLA-B, HLA-A, HLA-DQB1, HLA-C, HLA-DRB1
17
Show member pathways
8.7HLA-B, HLA-A, HLA-DQB1, HLA-C, HLA-DRB1
18
Show member pathways
8.7HLA-B, HLA-A, HLA-DQB1, HLA-C, HLA-DRB1
198.7HLA-B, HLA-A, HLA-DQB1, HLA-C, HLA-DRB1
20
Show member pathways
8.4CD79A, HLA-DRB1, HLA-C, HLA-DQB1, HLA-A, HLA-B
21
Show member pathways
Proteasome Degradation37
Immune response Antigen presentation by MHC class I60
8.1DSG2, DSG3, DSG1, DSP, HLA-C, HLA-A

Compounds for genes affiliated with Paraneoplastic Pemphigus

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Compounds related to Paraneoplastic Pemphigus according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
1dr-104410.1HLA-A, HLA-DRB1
2asulam4410.1PPL, DSP
3pneumococcal4410.1CD79A, HLA-B
4gliadin4410.0CD79A, HLA-DQB1
5toxin a449.9DSG3, DSG1
6ecori449.9HLA-B, HLA-DQB1
7gold449.8HLA-B, DST, COL17A1
8allopurinol44 50 1111.8HLA-A, HLA-B
9carbamazepine44 50 1111.7HLA-B, HLA-A, CD79A
10ivig449.7CD79A, DSG3, DSG1
11acetone449.7BLZF1, DSP
12allergens449.6CD79A, BLZF1, HLA-DRB1
135-aza-2deoxycytidine449.6JUP, HLA-A, HLA-B
14paraffin449.5HLA-B, JUP, DST, CD79A
15dapsone44 2 50 1112.5CD79A, HLA-B
16nacl449.5COL17A1, DST, BLZF1
17sucrose44 24 1111.4BLZF1, JUP, DSP, DSG1, COL17A1
18tacrolimus44 50 1111.4CD79A, HLA-A, HLA-B
19steroid449.1HLA-B, BLZF1, DSP, COL17A1, CD79A
20acetylcholine44 50 28 24 1113.1BLZF1, DSG1, DSG3, CD79A
21cyclosporin a44 28 6111.1CD79A, BLZF1, HLA-A, HLA-B
22retinoic acid44 249.9HLA-B, BLZF1, JUP, DSP, DSG1, CD79A
23oligonucleotide448.9HLA-B, HLA-A, HLA-DQB1, HLA-DRB1, JUP, DST
24arginine448.8HLA-B, HLA-A, HLA-DRB1, BLZF1, CD79A
25serine448.4HLA-B, BLZF1, JUP, DSP, DSG1, DSG3
26tyrosine446.5HLA-DRB1, HLA-DQB1, HLA-A, HLA-B, BLZF1, C6orf25
27calcium44 50 24 119.5COL17A1, HLA-B, HLA-A, BLZF1, C6orf25, JUP

GO Terms for genes affiliated with Paraneoplastic Pemphigus

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Cellular components related to Paraneoplastic Pemphigus according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1fascia adherensGO:00591610.0JUP, DSP
2hemidesmosomeGO:03005610.0COL17A1, DST, JUP
3lateral plasma membraneGO:0163289.9JUP, DSG1, DSG2
4intermediate filamentGO:0058829.8DST, DSP, JUP
5cornified envelopeGO:0015339.8EVPL, DSP
6cell-cell junctionGO:0059119.7COL17A1, DSG2, DSG1, JUP
7MHC class II protein complexGO:0426139.7HLA-DRB1, HLA-DQB1
8MHC class I protein complexGO:0426129.6HLA-B, HLA-A, HLA-C
9phagocytic vesicle membraneGO:0306709.5HLA-C, HLA-A, HLA-B
10early endosome membraneGO:0319019.5HLA-B, HLA-A, HLA-C
11integral component of lumenal side of endoplasmic reticulum membraneGO:0715569.0HLA-B, HLA-A, HLA-DQB1, HLA-C, HLA-DRB1
12ER to Golgi transport vesicle membraneGO:0125079.0HLA-B, HLA-A, HLA-DQB1, HLA-C, HLA-DRB1
13integral component of plasma membraneGO:0058878.8HLA-A, HLA-C, HLA-DRB1, COL17A1, HLA-B
14Golgi membraneGO:0001398.4HLA-B, HLA-A, HLA-DQB1, HLA-C, HLA-DRB1, BLZF1
15desmosomeGO:0300578.3EVPL, PPL, JUP, DSP, DSG1, DSG3
16extracellular vesicular exosomeGO:0700626.6PPL, HLA-B, HLA-A, HLA-C, HLA-DRB1, JUP
17plasma membraneGO:0058865.4HLA-DRB1, HLA-C, HLA-DQB1, HLA-A, HLA-B, PPL

Biological processes related to Paraneoplastic Pemphigus according to GeneCards/GeneDecks:

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1epidermis developmentGO:00854410.1EVPL, COL17A1, DSP
2immunoglobulin production involved in immunoglobulin mediated immune responseGO:00238110.0HLA-DQB1, HLA-DRB1
3maternal process involved in female pregnancyGO:06013510.0DSG2, DSG1
4humoral immune response mediated by circulating immunoglobulinGO:00245510.0HLA-DRB1, HLA-DQB1
5cell-cell adhesionGO:0163379.9JUP, DSP, DSG1
6bundle of His cell to Purkinje myocyte communicationGO:0860699.9DSG2, DSC2, DSP, JUP
7ventricular cardiac muscle cell action potentialGO:0860059.9JUP, DSP, DSC2, DSG2
8regulation of heart rate by cardiac conductionGO:0860919.9JUP, DSP, DSC2, DSG2
9hemidesmosome assemblyGO:0315819.9COL17A1, DST
10peptide cross-linkingGO:0181499.8EVPL, DSP
11antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independentGO:0024869.7HLA-C, HLA-A, HLA-B
12antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independentGO:0024809.7HLA-C, HLA-A, HLA-B
13positive regulation of T cell mediated cytotoxicityGO:0019169.7HLA-C, HLA-A, HLA-B
14detection of bacteriumGO:0160459.7HLA-B, HLA-A, HLA-DRB1
15type I interferon signaling pathwayGO:0603379.6HLA-C, HLA-A, HLA-B
16antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependentGO:0024799.6HLA-C, HLA-A, HLA-B
17antigen processing and presentation of exogenous peptide antigen via MHC class IGO:0425909.6HLA-B, HLA-A, HLA-C
18cellular component disassembly involved in execution phase of apoptosisGO:0069219.5DSP, DSG1, DSG3, DSG2
19regulation of immune responseGO:0507769.5HLA-C, HLA-A, HLA-B
20homophilic cell adhesionGO:0071569.5DSG1, DSG3, DSC2, DSG2
21antigen processing and presentation of peptide antigen via MHC class IGO:0024749.4HLA-B, HLA-A, HLA-C
22interferon-gamma-mediated signaling pathwayGO:0603339.1HLA-B, HLA-A, HLA-DQB1, HLA-C, HLA-DRB1
23cytokine-mediated signaling pathwayGO:0192219.0HLA-B, HLA-A, HLA-DQB1, HLA-C, HLA-DRB1
24immune responseGO:0069559.0HLA-B, HLA-A, HLA-DQB1, HLA-C, HLA-DRB1

Molecular functions related to Paraneoplastic Pemphigus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:0051989.8EVPL, DSP, JUP
2MHC class II receptor activityGO:0323959.5HLA-DRB1, HLA-DQB1
3TAP bindingGO:0469779.5HLA-C, HLA-A, HLA-B
4peptide antigen bindingGO:0426059.0HLA-DRB1, HLA-C, HLA-A, HLA-B
5calcium ion bindingGO:0055098.8DST, DSG1, DSG3, DSC2, DSG2

Products for genes affiliated with Paraneoplastic Pemphigus

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Sources for Paraneoplastic Pemphigus

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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