MCID: MCS003
MIFTS: 60

Mucous Membrane Pemphigoid malady

Skin diseases, Rare diseases categories
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Summaries for Mucous Membrane Pemphigoid

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Wikipedia:65 Cicatricial pemphigoid (also known as \"Mucous Membrane Pemphigoid\", \"MMP\", \"Benign mucosal... more...

MalaCards based summary: Mucous Membrane Pemphigoid, also known as mucosal pemphigoid, is related to ocular cicatricial pemphigoid and pemphigus, and has symptoms including chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis, vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment and enanthema/aphtosa/aphta/leukoplakia. An important gene associated with Mucous Membrane Pemphigoid is COL17A1 (collagen, type XVII, alpha 1), and among its related pathways are Cell adhesion Endothelial cell contacts by non junctional mechanisms and Arf6 trafficking events. The compounds unicap and sodium cromoglycate have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and testes, and related mouse phenotypes are hearing/vestibular/ear and renal/urinary system.

Description from OMIM:46 164185

Aliases & Classifications for Mucous Membrane Pemphigoid

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Sources:
48Orphanet, 46OMIM, 62UMLS, 26ICD10 via Orphanet, 25ICD10
See all sources

Mucous Membrane Pemphigoid, Aliases & Descriptions:

Name: Mucous Membrane Pemphigoid 48 46 62
Mucosal Pemphigoid 48 62
Mucosynechial Pemphigoid 48
 
Pemphigoid, Cicatricial 62
Cicatricial Pemphigoid 48


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
mucous membrane pemphigoid:
Inheritance: Sporadic; Age of onset: Adulthood; Age of death: Normal


External Ids:

OMIM46 164185
ICD10 via Orphanet26 L12.1
ICD1025 L12.1

Related Diseases for Mucous Membrane Pemphigoid

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Diseases related to Mucous Membrane Pemphigoid via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 147)
idRelated DiseaseScoreTop Affiliating Genes
1ocular cicatricial pemphigoid32.5ITGB4, ITGA6
2pemphigus31.5CD79A, CDH3, DSG1
3bullous pemphigoid31.4ITGA6, COL17A1
4lichen planus31.2COL17A1, LAMC2
5pemphigus vulgaris31.1CDH1, CDH3, DSG1
6herpes gestationis31.1COL17A1
7conjunctivitis30.9CD79A, IGHE
8epidermolysis bullosa30.7LAMB3, LAMC2, ITGA6, ITGB4, COL17A1
9epidermolysis bullosa acquisita30.7LAMC2, DSG1, ITGB4, COL17A1, CD79A
10dermatitis herpetiformis30.6HLA-DQB1, CD79A
11ovarian cancer30.5CDH1, COL17A1, ITGB4, ITGA6
12pancreatic cancer30.4ITGA6, ITGB4, CDH3, CDH1
13respiratory failure30.1IL13, IGHE
14adenocarcinoma30.1LAMC2, ITGA6, ITGB4, CDH3, CDH1
15dermatitis29.9CD79A, IL13, DSG1, IGHE
16cicatricial pemphigoid10.8
17esophagitis10.7
18gingivitis10.7
19periodontitis10.6
20laryngitis10.6
21arthritis10.6
22rheumatoid arthritis10.6
23stevens-johnson syndrome10.6
24hailey-hailey disease10.5CDH3
25cataract10.5
26entropion10.5
27hereditary diffuse gastric cancer10.4CDH1
28epidermolysis bullosa simplex with pyloric atresia10.4ITGA6, ITGB4
29graft versus host disease10.4
30leukemia10.4
31linear iga disease10.4
32epidermolysis bullosa with pyloric atresia10.4ITGA6, ITGB4
33brunsting-perry syndrome10.4
34epidermolysis bullosa simplex10.4ITGB4, COL17A1
35bullous skin disease10.4DSG1, COL17A1
36junctional epidermolysis bullosa, non-herlitz type10.4LAMB3, COL17A1
37subcorneal pustular dermatosis10.4DSG1, CD79A
38pemphigus foliaceus10.4CD79A, DSG1
39corneal ulcer10.3
40keratitis10.3
41lichen sclerosus10.3
42junctional epidermolysis bullosa, herlitz type10.3LAMB3, LAMC2
43strongyloidiasis10.3IGHE
44nasopharynx carcinoma10.3CD79A, CDH1
45lipoid nephrosis10.3IL13, CD79A
46chronic lymphocytic leukemia10.3
47hepatocellular carcinoma10.3
48hypertension10.3
49liver cirrhosis10.3
50myasthenia gravis10.3

Graphical network of the top 20 diseases related to Mucous Membrane Pemphigoid:



Diseases related to mucous membrane pemphigoid

Symptoms for Mucous Membrane Pemphigoid

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Symptoms by clinical synopsis from OMIM:

164185

Clinical features from OMIM:

164185

Symptoms:

48 (show all 9)
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • enanthema/aphtosa/aphta/leukoplakia
  • autoimmunity/autoimmune reaction/autoantibodies
  • gingivitis
  • abnormal scarring/cheloids/hypertrophic scars
  • functional anomalies of the genital system
  • corneal clouding/opacity/vascularisation
  • visual loss/blindness/amblyopia

HPO human phenotypes related to Mucous Membrane Pemphigoid:

(show all 10)
id Description Frequency HPO Source Accession
1 autoimmunity hallmark (90%) HP:0002960
2 abnormal blistering of the skin hallmark (90%) HP:0008066
3 inflammatory abnormality of the eye hallmark (90%) HP:0100533
4 abnormality of reproductive system physiology typical (50%) HP:0000080
5 gingivitis typical (50%) HP:0000230
6 atypical scarring of skin typical (50%) HP:0000987
7 visual impairment occasional (7.5%) HP:0000505
8 opacification of the corneal stroma occasional (7.5%) HP:0007759
9 autosomal dominant inheritance HP:0000006
10 abnormality of the eye HP:0000478

Drugs & Therapeutics for Mucous Membrane Pemphigoid

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Drug clinical trials:

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Genetic Tests for Mucous Membrane Pemphigoid

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Anatomical Context for Mucous Membrane Pemphigoid

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MalaCards organs/tissues related to Mucous Membrane Pemphigoid:

32
Skin, T cells, Testes, Trachea, Eye, Liver, Thyroid, Prostate

Animal Models for Mucous Membrane Pemphigoid or affiliated genes

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MGI Mouse Phenotypes related to Mucous Membrane Pemphigoid:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.7LAMC2, ITGA6, ITGB4, IL13
2MP:00053678.6HLA-DQB1, LAMC2, ITGA6, ITGB4, CD79A
3MP:00053798.3CDH1, CDH3, IL13, ITGA6, HLA-DQB1
4MP:00053888.2HLA-DQB1, LAMB3, LAMC2, ITGA6, ITGB4, IL13
5MP:00053817.7HLA-DQB1, LAMB3, LAMC2, ITGA6, ITGB4, IL13
6MP:00107717.7CDH1, LAMB3, LAMC2, ITGA6, ITGB4, IL13
7MP:00053847.2HLA-DQB1, ITGA6, ITGB4, IL13, EIF6, CD79A
8MP:00053877.0IGHE, HLA-DQB1, LAMC2, ITGA6, ITGB4, IL13
9MP:00107686.6HLA-DQB1, LAMB3, LAMC2, ITGA6, ITGB4, IL13

Publications for Mucous Membrane Pemphigoid

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Articles related to Mucous Membrane Pemphigoid:

(show top 50)    (show all 268)
idTitleAuthorsYear
1
Mucous Membrane Pemphigoid with Immunoglobulin G Autoantibodies to the 120-kDa Ectodomain of Type XVII Collagen (BP180/Linear IgA Dermatosis Antigen) in a Patient with Idiopathic Thrombocytopenic Purpura. (25178495)
2014
2
A case of anti-BP180 type mucous membrane pemphigoid treated with intravenous immunoglobulin. (24909219)
2014
3
Retraction notice to a89Simultaneous presence of mucous membrane pemphigoid and pemphigus vulgaris: molecular characterization of both autoantibodiesa89 [Clin. Immunol. 100 (2001) 219-27]. (25057527)
2014
4
Amlodipine as a cause of mucous membrane pemphigoid: first report of amlodipine as a causative agent in MMP. (24008928)
2013
5
Critical analysis of the use of rituximab in mucous membrane pemphigoid: a review of the literature. (23200198)
2013
6
Interleukin-4RA gene polymorphism is associated with oral mucous membrane pemphigoid. (23557074)
2013
7
Treatment of mucous membrane pemphigoid with mycophenolate mofetil. (23132447)
2013
8
Identification of epitopes within integrin I^4 for binding of auto-antibodies in ocular cicatricial and mucous membrane pemphigoid: preliminary report. (24130186)
2013
9
Case of mucous membrane pemphigoid characterized by circulating immunoglobulin A and immunoglobulin G autoantibodies to the gamma-2 subunit of laminin-332. (22364356)
2012
10
Mucous membrane pemphigoid: do we really care about a more specific diagnosis? (22703909)
2012
11
Mucous membrane pemphigoid with generalized blisters: IgA and IgG autoantibodies target both laminin-332 and type XVII collagen. (22182184)
2012
12
Lichen planus-type chronic graft-versus-host disease complicated by mucous membrane pemphigoid with positive anti-BP180/230 and scleroderma-related autoantibodies followed by reduced regulatory T cell frequency. (22217601)
2012
13
Rituximab for patients with refractory mucous membrane pemphigoid. (21422323)
2011
14
Angioimmunoblastic T-cell lymphoma presenting with both IgA-related leukocytoclastic vasculitis and mucous membrane pemphigoid. (21489903)
2011
15
Therapeutic effect of etanercept in anti-laminin 5 (laminin 332) mucous membrane pemphigoid. (22126878)
2011
16
Rare case of asymptomatic mucous membrane pemphigoid. (21696532)
2011
17
Reciprocal altered expression of E-cadherin and P-cadherin in mucous membrane pemphigoid. (21781454)
2011
18
Pathogenesis of mucous membrane pemphigoid. (21605815)
2011
19
Anti-laminin-332 mucous membrane pemphigoid associated with recurrent metastatic prostate carcinoma: hypothesis for a paraneoplastic phenomenon. (21527374)
2011
20
Rituximab for severe mucous membrane pemphigoid: safe enough to be drug of first choice? (21768487)
2011
21
The management of mucous membrane pemphigoid and pemphigus. (20597945)
2010
22
Benign mucous membrane pemphigoid concurrent with primary sclerosing cholangitis. (19405234)
2009
23
Oral Pathology Quiz #61. Case number 2. Mucous membrane pemphigoid. (19177962)
2008
24
Mucous membrane pemphigoid in HIV patient: a case report. (19025605)
2008
25
An unusual presentation of mucous membrane pemphigoid. (18174805)
2008
26
A prospective study of upper aerodigestive tract manifestations of mucous membrane pemphigoid. (16862049)
2006
27
Role of electron microscopy in the diagnosis of ocular mucous membrane pemphigoid. (16828515)
2006
28
Cicatricial pemphigoid (mucous membrane pemphigoid): current and emerging therapeutic approaches. (15799681)
2005
29
Mucous membrane pemphigoid of the vulva. (15863576)
2005
30
Mucous membrane pemphigoid. Update for the general practitioner. (14621367)
2003
31
Testing your diagnostic skills. Case No.1. Benign mucous membrane pemphigoid. (12833724)
2003
32
In vitro organ culture model for mucous membrane pemphigoid. (11161979)
2001
33
Mucous membrane pemphigoid presenting with isolated esophageal involvement: a case report. (10968869)
2000
34
Image interpretation session: 1999. Benign mucous membrane pemphigoid (cicatricial pemphigoid). (10682788)
2000
35
Mucous membrane pemphigoid, thymoma, and myasthenia gravis. (11044197)
2000
36
Mucous membrane pemphigoid: a dual circulating antibody response with IgG and IgA signifies a more severe and persistent disease. (9640363)
1998
37
Mucous membrane pemphigoid. Treatment experience at two institutions. (1508509)
1992
38
Benign mucous membrane pemphigoid: a case report. (1742665)
1991
39
Mucous membrane pemphigoid: a case report. (2198110)
1990
40
Oral involvement in mucous membrane pemphigoid. (3552187)
1987
41
Localization of basement membrane components in mucous membrane pemphigoid. (3881535)
1985
42
Oesophageal involvement in benign mucous membrane pemphigoid. (6365406)
1984
43
Mucous membrane pemphigoid--a preventable cause of laryngeal stenosis. (6350515)
1983
44
Case 32, part 2. Cicatricial pemphigoid (benign mucous membrane pemphigoid). (6999138)
1980
45
Benign mucous membrane pemphigoid in association with internal malignancy. (6987041)
1980
46
Benign mucous membrane pemphigoid. (378137)
1979
47
Benign mucous membrane pemphigoid in an 18-year-old woman. (356737)
1978
48
Benign mucous membrane pemphigoid. II. Cytology. (4134586)
1974
49
Mucous membrane pemphigoid. (5569330)
1971
50
Benign mucous membrane pemphigoid with laryngeal stenosis in a patient with thyroid carcinoma. (5654579)
1968

Variations for Mucous Membrane Pemphigoid

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Expression for genes affiliated with Mucous Membrane Pemphigoid

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Expression patterns in normal tissues for genes affiliated with Mucous Membrane Pemphigoid

Search GEO for disease gene expression data for Mucous Membrane Pemphigoid.

Pathways for genes affiliated with Mucous Membrane Pemphigoid

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Pathways related to Mucous Membrane Pemphigoid according to GeneCards/GeneDecks:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9ITGA6, ITGB4
29.6CDH1, ITGA6
39.5CDH3, CDH1
49.4ITGA6, LAMC2, LAMB3
5
Show member pathways
Immune response BCR pathway60
Fc-epsilon receptor I signaling in mast cells37
9.2IGHE, IL13, CD79A
6
Show member pathways
Immune response T cell receptor signaling pathway60
Immune response CD28 signaling60
Immune response ICOS pathway in T helper cell60
9.1IGHE, HLA-DQB1, CD79A
79.1ITGB4, ITGA6, LAMC2, LAMB3
8
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
9.1ITGB4, ITGA6, LAMC2, LAMB3
9
Show member pathways
Proteogylcan syndecan-mediated signaling events37
9.1ITGB4, ITGA6, LAMC2, LAMB3
10
Show member pathways
9.1LAMB3, LAMC2, ITGA6, ITGB4
11
Show member pathways
9.1CD79A, ITGB4, ITGA6, HLA-DQB1
12
Show member pathways
9.1LAMB3, LAMC2, CDH1
139.0ITGA6, ITGB4, COL17A1, CDH1
149.0CDH1, CDH3, ITGB4, ITGA6
15
Show member pathways
8.9LAMB3, LAMC2, ITGA6, ITGB4, COL17A1
16
Show member pathways
8.9LAMB3, LAMC2, ITGA6, ITGB4, COL17A1
17
Show member pathways
8.8CDH1, IL13, ITGB4, ITGA6
188.8LAMB3, LAMC2, ITGA6, CDH1
19
Show member pathways
8.8CDH1, ITGB4, ITGA6, HLA-DQB1
208.7HLA-DQB1, ITGA6, CDH3, CDH1
21
Show member pathways
8.6LAMB3, LAMC2, ITGA6, ITGB4, COL17A1, CD79A
22
Show member pathways
8.4HLA-DQB1, LAMB3, LAMC2, ITGA6, IL13
23
Show member pathways
8.2LAMB3, LAMC2, ITGA6, ITGB4, COL17A1, CDH1
24
Show member pathways
8.0LAMB3, LAMC2, ITGA6, ITGB4, COL17A1, EIF6
25
Show member pathways
7.9CDH1, LAMB3, LAMC2, ITGA6, ITGB4, COL17A1
26
Show member pathways
7.5LAMB3, LAMC2, ITGA6, ITGB4, IL13, COL17A1

Compounds for genes affiliated with Mucous Membrane Pemphigoid

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Compounds related to Mucous Membrane Pemphigoid according to GeneCards/GeneDecks:

(show top 50)    (show all 56)
idCompoundScoreTop Affiliating Genes
1unicap4410.1IGHE, CD79A
2sodium cromoglycate4410.0CD79A, IGHE
3trimellitic anhydride449.9IGHE, IL13
4methyltetrahydrophthalic anhydride449.9IL13, IGHE
5omalizumab44 1110.9IGHE, IL13
6silicone449.9IGHE, CD79A
7ovomucoid449.9IL13, IGHE
8desloratadine44 1110.8IL13, IGHE
9rituximab44 50 1111.8DSG1, IL13, CD79A
10ivig449.7CD79A, DSG1, IGHE
11montelukast44 50 28 1112.7IL13, IGHE
12praziquantel44 1110.7CD79A, IL13, IGHE
13penicillin449.7IGHE, IL13, CD79A
14mycophenolic acid44 50 1111.6IL13, IGHE
15salbutamol44 50 28 24 1113.6CD79A, IL13, IGHE
16methacholine44 50 1111.6IGHE, IL13, CD79A
17allergens449.6CD79A, IL13, IGHE
18gliadin449.6CD79A, HLA-DQB1, IGHE
19kalinin449.6ITGB4, ITGA6, LAMC2, LAMB3
20prednisolone44 28 1111.6IGHE, IL13, CD79A
21inositol449.5CD79A, IL13, IGHE
22thyroxine44 2410.5IGHE, IL13, CD79A
23fluticasone propionate44 50 61 1112.5IL13, IGHE
24carbachol44 28 1111.4IL13, CD79A, CDH1
25budesonide44 50 1111.4IL13, IGHE
26hyaluronic acid44 2410.4CDH1, CD79A, IL13
27mannose449.4CDH1, CD79A, IL13
28matrigel449.4CDH1, ITGB4, ITGA6
29nickel44 2410.3CDH1, IL13, HLA-DQB1
30folate449.3IGHE, CD79A, CDH1
31aspirin44 50 28 2412.3IL13, CD79A, CDH1
32tarc449.3CDH1, IL13, IGHE
33acetylcholine44 50 28 24 1113.3IGHE, DSG1, IL13, CD79A
34sucrose44 24 1111.2DSG1, IL13, COL17A1, CDH1
35methotrexate50 44 1111.2CDH1, CD79A, ITGA6, IGHE
36n acetylcysteine449.0IGHE, CD79A, CDH1
37indomethacin44 28 61 1112.0IGHE, IL13, CD79A, CDH1
38histamine44 28 2411.0CDH1, CD79A, IL13, IGHE
39lactate448.9CDH1, CD79A, IL13, IGHE
40heparin44 28 24 1111.9IGHE, IL13, CD79A, CDH1
41glutamine448.7IGHE, HLA-DQB1, IL13, CDH1
42dexamethasone44 50 28 1111.7IGHE, IL13, CD79A, CDH1
43aspartate448.7IGHE, HLA-DQB1, IL13, CDH1
44progesterone44 28 61 24 1112.6CDH1, CDH3, EIF6, ITGA6
45estrogen448.6IGHE, IL13, CDH3, CD79A, CDH1
46glutamate448.4IGHE, HLA-DQB1, IL13, CD79A, CDH1
47arginine448.3CDH1, CD79A, IL13, IGHE
48retinoic acid44 249.1IGHE, DSG1, ITGA6, ITGB4, IL13, CD79A
49vegf447.9IGHE, ITGA6, IL13, EIF6, CD79A, CDH1
50tyrosine447.4HLA-DQB1, ITGA6, ITGB4, IL13, COL17A1, EIF6

GO Terms for genes affiliated with Mucous Membrane Pemphigoid

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Cellular components related to Mucous Membrane Pemphigoid according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hemidesmosomeGO:0300569.9COL17A1, ITGB4, ITGA6
2laminin-5 complexGO:0056109.9LAMB3, LAMC2
3basal plasma membraneGO:0099259.8ITGA6, ITGB4
4basement membraneGO:0056049.8COL17A1, ITGB4, ITGA6
5lateral plasma membraneGO:0163289.5CDH1, DSG1
6external side of plasma membraneGO:0098979.4CD79A, IL13, ITGA6
7cell-cell adherens junctionGO:0059139.4CDH1, CDH3, ITGA6
8cytoplasmic side of plasma membraneGO:0098989.2CDH1, DSG1
9extracellular regionGO:0055767.9IGHE, LAMB3, LAMC2, IL13, COL17A1, CDH1
10plasma membraneGO:0058867.7HLA-DQB1, DSG1, ITGA6, ITGB4, COL17A1, CDH3

Biological processes related to Mucous Membrane Pemphigoid according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1filopodium assemblyGO:0468479.9ITGB4, ITGA6
2cell-matrix adhesionGO:0071609.9ITGA6, ITGB4, COL17A1
3brown fat cell differentiationGO:0508739.7ITGA6, LAMB3
4epidermis developmentGO:0085449.6COL17A1, LAMC2, LAMB3
5cellular component disassembly involved in execution phase of apoptosisGO:0069219.5CDH1, DSG1
6cell-cell adhesionGO:0163379.4DSG1, ITGA6, CDH1
7homophilic cell adhesionGO:0071569.3DSG1, CDH3, CDH1
8adherens junction organizationGO:0343329.2CDH1, CDH3
9cell adhesionGO:0071559.2CDH3, ITGB4, LAMC2, LAMB3
10hemidesmosome assemblyGO:0315819.1LAMB3, LAMC2, ITGA6, ITGB4, COL17A1
11extracellular matrix disassemblyGO:0226179.0CDH1, COL17A1, LAMC2, LAMB3
12extracellular matrix organizationGO:0301988.5LAMB3, LAMC2, ITGA6, ITGB4, COL17A1, CDH1
13cell junction assemblyGO:0343298.2CDH1, CDH3, COL17A1, ITGB4, ITGA6, LAMC2

Molecular functions related to Mucous Membrane Pemphigoid according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gamma-catenin bindingGO:0452959.5CDH1, DSG1

Products for genes affiliated with Mucous Membrane Pemphigoid

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Sources for Mucous Membrane Pemphigoid

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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