MCID: BLL006
MIFTS: 65

Bullous Pemphigoid malady

Skin category

Summaries for Bullous Pemphigoid

Sources:
8Disease Ontology, 43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 Bullous pemphigoid is a skin disorder characterized by large blisters. the blisters are usually located on the arms, legs, or middle of the body. about one-third of persons with bullous pemphigoid also develop blisters in the mouth. the blisters may break open and form ulcers or open sores. it usually occurs in elderly persons and is rare in young people. symptoms come and go. in most patients, the condition goes away within 6 years. the cause is not known, but may be related to immune system disorders. last updated: 4/28/2010

MalaCards: Bullous Pemphigoid, also known as pemphigoid, is related to pemphigus and epidermolysis bullosa acquisita, and has symptoms including eczema, urticaria and erythema/erythematous lesions/erythroderma/polymorphous erythema. An important gene associated with Bullous Pemphigoid is HLA-DRB1 (major histocompatibility complex, class II, DR beta 1), and among its related pathways are Integrin Pathway and Akt Signaling. The drug sulfapyridine pwdr and the compounds tyrosine and calcium have been mentioned in the context of this disorder. Affiliated tissues include whole blood, thymus and brain, and related mouse phenotypes are hematopoietic system and immune system.

Disease Ontology:8 An autoimmune disease of skin and connective tissue characterized by large blisters.

Wikipedia:64 Bullous pemphigoid is an acute or chronic autoimmune skin disease, involving the formation of blisters,... more...

Aliases & Classifications for Bullous Pemphigoid

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 49Orphanet, 61UMLS, 47OMIM, 9diseasecard, 45Novoseek, 35MeSH, 57SNOMED-CT, 40NCIt, 27ICD9CM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin


Characteristics (Orphanet epidemiological data):

49
bullous pemphigoid:
Prevalence: 1-9/100000; Age of onset: Variable


Aliases & Descriptions:

bullous pemphigoid 8 43 10 49 61
pemphigoid 8 43 47
senile dermatitis herpetiformis 43 61
benign pemphigus 43 61
pemphigoid, susceptibility to 9
pemphigoid bullous 45
old age pemphigus 43
pemphigoid nos 8
parapemphigus 43


External Ids:

Disease Ontology8 DOID:8506
MeSH35 D010391
ICD9CM27 694.5
MESH via Orphanet36 D010391
ICD10 via Orphanet26 L12.0
SNOMED-CT via Orphanet58 77090002
UMLS via Orphanet62 C0030805
ICD1025 L12, L12.0, L12.9

Related Diseases for Bullous Pemphigoid

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 220)
idRelated DiseaseScoreTop Affiliating Genes
1pemphigus31.3DST
2epidermolysis bullosa acquisita31.2COL17A1, ITGB4, DST, LAD1
3cicatricial pemphigoid31.2COL17A1, ITGB4, ITGA6, DST, LAD1
4herpes gestationis31.0RNASE3, DST, COL17A1
5pemphigus vulgaris31.0CCL11, HLA-DRB1, DST, FCER2
6pemphigus foliaceus31.0DST, HLA-DRB1
7lichen planus30.7DST, COL17A1
8junctional epidermolysis bullosa30.6COL17A1, ITGB4, ITGA6, DST
9arthritis30.6FCER2, HLA-DRB1
10epidermolysis bullosa simplex30.5DST, ITGB4, COL17A1
11systemic lupus erythematosus30.5CD22
12hepatitis b30.5HLA-DRB1, HLA-DQB1
13ocular cicatricial pemphigoid30.4ITGA6, ITGB4
14atopic dermatitis30.1CCL11, CCL1, CCL13, ITGA6, IGHE, RNASE3
15churg-strauss syndrome30.1IL5, RNASE3
16chronic eosinophilic pneumonia30.1IL5, RNASE3, CCL11
17hypereosinophilic syndrome30.1CCL11, IGHE, RNASE3, IL5
18adenocarcinoma30.1ITGA6, ITGB4, CCL26
19celiac disease30.1HLA-DQB1
20tuberculosis30.1HLA-DQB1, HLA-DRB1
21graves' disease30.1HLA-DRB1, HLA-DQB1
22urticaria29.9IGHE, RNASE3, FCER2
23pemphigoid gestationis10.8
24neurologic diseases10.5
25bullous lichen planus10.5
26mucous membrane pemphigoid10.5
27squamous cell carcinoma10.4
28lichen planus pemphigoides10.4
29erythema multiforme10.3
30hemophilia b10.3
31vitiligo10.3
32brain disease10.3
33hemophilia10.3
34hemophilia a, acquired10.3
35acquired hemophilia10.3
36bullous systemic lupus erythematosus10.3
37stevens-johnson syndrome10.2
38subcorneal pustular dermatosis10.2
39hepatitis c10.2
40alopecia universalis10.2
41necrotizing fasciitis10.2
42kaposi's sarcoma10.2
43alopecia10.2
44lichen sclerosus10.2
45prurigo nodularis10.2
46hypothyroidism, autoimmune10.2
47herpetiform pemphigus10.2
48paraneoplastic pemphigus10.2
49discoid lupus erythematosus10.2
50cicatricial entropion10.1

Graphical network of the top 20 diseases related to Bullous Pemphigoid:



Diseases related to bullous pemphigoid

Clinical Features for Bullous Pemphigoid

Sources:
49Orphanet
See all sources


Symptoms:

49 (show all 12)
  • eczema
  • urticaria
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • macules
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • negative nikolski's sign
  • enanthema/aphtosa/aphta/leukoplakia
  • diabetes mellitus
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • autoimmunity/autoimmune reaction/autoantibodies
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • psoriasis

Drugs & Therapeutics for Bullous Pemphigoid

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Bullous Pemphigoid

Drug clinical trials:

Search ClinicalTrials for Bullous Pemphigoid

Search NIH Clinical Center for Bullous Pemphigoid

Search CenterWatch for Bullous Pemphigoid

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Bullous Pemphigoid

Anatomical Context for Bullous Pemphigoid

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Bullous Pemphigoid:

33
Whole blood, Thymus, Brain, Colon, Liver, Lung, Thyroid, Breast, Skin, Prostate, T cells, B cells, Endothelial

Animal Models for Bullous Pemphigoid or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Bullous Pemphigoid:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539710.6HLA-DQB1, ITGA6, DST, IGHE, CD22, IL5
2MP:000538710.3FCER2, COL17A1, CCL11, CCL1, HLA-DQB1, ITGB4

Publications for Bullous Pemphigoid

Sources:
51PubMed
See all sources

Articles related to Bullous Pemphigoid:

(show top 50)    (show all 807)
idTitleAuthorsYear
1
Oesophageal involvement in bullous pemphigoid. (23517357)
2013
2
Celecoxib-induced bullous pemphigoid. (23930364)
2013
3
Treatment of bullous pemphigoid with rituximab: critical analysis of the current literature. (23839185)
2013
4
Prothrombotic state and impaired fibrinolysis in bullous pemphigoid, the most frequent autoimmune blistering disease. (23199326)
2013
5
Bullous pemphigoid induced by contact with a Rhus tree. (22759593)
2012
6
British Association of Dermatologists' guidelines for the management of bullous pemphigoid 2012. (23121204)
2012
7
Biochip technology for the serological diagnosis of bullous pemphigoid. (23346412)
2012
8
Evidence-based treatments for pemphigus vulgaris, pemphigus foliaceus, and bullous pemphigoid: a systematic review. (21727693)
2011
9
Usefulness of BP230 and BP180-NC16a enzyme-linked immunosorbent assays in the initial diagnosis of bullous pemphigoid: a retrospective study of 138 patients. (21422334)
2011
10
Type XVII collagen regulates lamellipod stability, cell motility, and signaling to Rac1 by targeting bullous pemphigoid antigen 1e to alpha6beta4 integrin. (21642434)
2011
11
Physical signs for the general dental practitioner. Case 78. Bullous pemphigoid. (21137852)
2010
12
Trauma-induced bullous pemphigoid. (19915251)
2009
13
Bullous pemphigoid precipitated by galantamine hydrobromide. (19363906)
2009
14
Autoantibodies against type XVII collagen C-terminal domain in a patient with bullous pemphigoid associated with psoriasis vulgaris. (19077079)
2009
15
Experimental animal models of bullous pemphigoid. (19755945)
2009
16
Autoimmunity in bullous pemphigoid. (19755944)
2009
17
Searching for foreign antigens as possible triggering factors of autoimmunity: Torque Teno virus DNA prevalence is elevated in sera of patients with bullous pemphigoid. (18400063)
2008
18
Bullous pemphigoid in infancy: Clinical and epidemiologic characteristics. (17945382)
2008
19
A quick and simple serum test to differentiate bullous pemphigoid, epidermolysis bullosa acquisita, and anti-epiligrin cicatricial pemphigoid. (18718187)
2008
20
Serum chemokine profile in patients with bullous pemphigoid. (17300233)
2007
21
Kaposi's sarcoma as a KAPbner phenomenon in a patient with bullous pemphigoid and sarcoidosis. (17509064)
2007
22
Bullous pemphigoid associated with dermatomyositis and colon carcinoma. (17397352)
2007
23
A comparison of oral methylprednisolone plus azathioprine or mycophenolate mofetil for the treatment of bullous pemphigoid. (18087004)
2007
24
Increased serum levels of circulating CD40 ligand in patients with bullous pemphigoid: preliminary results. (17823512)
2007
25
Langerhans cell component in bullous pemphigoid-like lesions associated with chronic lymphocytic leukemia. (17509398)
2007
26
Structural analysis of the plakin domain of bullous pemphigoid antigen1 (BPAG1) suggests that plakins are members of the spectrin superfamily. (17161423)
2007
27
Localised bullous pemphigoid in the breast. (16707831)
2006
28
Bullous pemphigoid antigen 1 isoforms: potential new target autoantigens in multiple sclerosis? (15787824)
2005
29
Detection of laminin 5-specific auto-antibodies in mucous membrane and bullous pemphigoid sera by ELISA. (15816831)
2005
30
Increased serum CCL28 levels in patients with atopic dermatitis, psoriasis vulgaris and bullous pemphigoid. (15854059)
2005
31
Development of a novel ELISA system for detection of anti-BP180 IgG and characterization of autoantibody profile in bullous pemphigoid patients. (15541078)
2004
32
Chlorambucil as a steroid-sparing agent in bullous pemphigoid. (15541099)
2004
33
Influence of intravenous immunoglobulin therapy on autoantibody titres to BP Ag1 and BP Ag2 in patients with bullous pemphigoid. (14761129)
2003
34
Trehalose conserves expression of bullous pemphigoid antigen 180 during desiccation and freezing. (12667682)
2003
35
Severity and phenotype of bullous pemphigoid relate to autoantibody profile against the NH2- and COOH-terminal regions of the BP180 ectodomain. (12445194)
2002
36
Localized bullous pemphigoid induced by thermal burn]. (11011162)
2000
37
Bullous pemphigoid as an initial presentation of renal oncocytoma. (10419289)
1999
38
Childhood bullous pemphigoid associated with IgA antibodies against BP180 or BP230 antigens. (10215779)
1999
39
Bullous systemic lupus erythematosus with autoantibodies recognizing multiple skin basement membrane components, bullous pemphigoid antigen 1, laminin-5, laminin-6, and type VII collagen. (10328198)
1999
40
Direct interaction between the intracellular domains of bullous pemphigoid antigen 2 (BP180) and beta 4 integrin, hemidesmosomal components of basal keratinocytes. (9500991)
1998
41
Immunofluorescence-negative bullous pemphigoid sera contain antibodies mostly directed against the 180 kDa bullous pemphigoid antigen (BPAg2) (9292090)
1997
42
Pemphigoid gestationis with autoantibodies exclusively directed to the 230-kDa bullous pemphigoid antigen (BP230Ag) (8731696)
1996
43
Aberrant expression of a hemidesmosomal protein, bullous pemphigoid antigen 2, in human squamous cell carcinoma. (8874389)
1996
44
Expression of laminin, type IV procollagen and 230 kDa bullous pemphigoid antigen genes by keratinocytes and fibroblasts in culture: application of the polymerase chain reaction for detection of small amounts of messenger RNA. (7818282)
1994
45
Cloning of type XVII collagen. Complementary and genomic DNA sequences of mouse 180-kilodalton bullous pemphigoid antigen (BPAG2) predict an interrupted collagenous domain, a transmembrane segment, and unusual features in the 5'-end of the gene and the 3'-untranslated region of the mRNA. (8473327)
1993
46
A passive transfer model of the organ-specific autoimmune disease, bullous pemphigoid, using antibodies generated against the hemidesmosomal antigen, BP180. (7693763)
1993
47
Differences in direct immunofluorescence staining patterns in epidermolysis bullosa acquisita and bullous pemphigoid. (1430385)
1992
48
Lichen planus pemphigoides: its relationship to bullous pemphigoid. (1911320)
1991
49
Distinct functions for integrins alpha 3 beta 1 in focal adhesions and alpha 6 beta 4/bullous pemphigoid antigen in a new stable anchoring contact (SAC) of keratinocytes: relation to hemidesmosomes. (2269668)
1990
50
The complement fixing ability of anti-basement membrane zone IgG subclass of herpes gestationis and bullous pemphigoid. (2563610)
1989

Genetic Variations for Bullous Pemphigoid

Expression for genes affiliated with Bullous Pemphigoid

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Bullous Pemphigoid

Search GEO for disease gene expression data for Bullous Pemphigoid.

Pathways for genes affiliated with Bullous Pemphigoid

Sources:
52QIAGEN, 30KEGG, 38NCBI BioSystems Database, 12EMD Millipore, 54Reactome
See all sources

Pathways related to Bullous Pemphigoid according to GeneCards/GeneDecks:

(show all 23)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.6COL17A1, CCL11, CCL1, CCL26, CCL8, CCL13
2
Hide members
10.6CCL11, CCL1, CCL26, CCL8, CCL13, ITGB4
3
Hide members
10.6CCL11, CCL1, CCL26, CCL8, CCL13, ITGB4
4
Hide members
10.6CCL11, HLA-DQB1, HLA-DRB1, RNASE3, IL5
5
Hide members
10.6CCL1, CCL26, CCL8, CCL13, ITGB4, ITGA6
6
Hide members
10.6FCER2, ITGA6, ITGB4, HLA-DRB1, HLA-DQB1
710.5FCER2, IL5, IGHG3, IGHE, CCL26, CCL11
8
Hide members
10.5ITGA6, ITGB4, HLA-DRB1, HLA-DQB1
9
Hide members
10.5HLA-DQB1, HLA-DRB1, ITGA6, IL5
10
Hide members
10.5CCL11, IGHE, IGHG3, CD22, IL5, FCER2
11
Hide members
10.5DST, ITGA6, ITGB4, COL17A1
1210.5COL17A1, ITGB4, ITGA6, DST
13
Hide members
10.5COL17A1, ITGB4, ITGA6, DST
1410.5COL17A1, ITGB4, ITGA6, DST
15
Hide members
10.5CCL11, CCL1, CCL26, CCL8, CCL13, IL5
1610.5HLA-DRB1, ITGA6, CD22, IL5, FCER2
1710.5HLA-DQB1, HLA-DRB1, ITGA6, CD22
18
Hide members
10.5CCL11, CCL1, CCL26, CCL8, IL5
19
Hide members
10.5CCL13, CCL8, CCL26, CCL1, CCL11
20
Immune response NFAT in immune response
Hide members
10.5HLA-DQB1, HLA-DRB1, IGHE
2110.5COL17A1, ITGB4, ITGA6
22
Immune response CCR3 signaling in eosinophils
Hide members
10.5CCL11, CCL26, CCL8, CCL13
2310.5FCER2, ITGA6, ITGB4

Compounds for genes affiliated with Bullous Pemphigoid

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 29IUPHAR, 60Tocris Bioscience
See all sources

Compounds related to Bullous Pemphigoid according to GeneCards/GeneDecks:

(show top 50)    (show all 59)
idCompoundScoreTop Affiliating Genes
1tyrosine4511.0COL17A1, CCL11, CCL8, HLA-DQB1, HLA-DRB1, ITGB4
2calcium45 50 11 2414.0COL17A1, CCL11, CCL1, CCL26, CCL8, CCL13
3allergens4511.0CCL11, HLA-DRB1, IGHE, RNASE3, IL5, FCER2
4tarc4511.0IL5, CCL11, CCL1, CCL26, CCL8, CCL13
5salbutamol45 50 29 11 2415.0CCL11, IGHE, RNASE3, IL5, FCER2
6unicap4511.0CCL11, IGHE, RNASE3, IL5
7sodium cromoglycate4511.0IL5, RNASE3, IGHE, CCL11
8cetirizine45 29 11 2414.0CCL11, IGHE, RNASE3, IL5
9ketotifen45 1112.0CCL11, IGHE, RNASE3, IL5
10nedocromil sodium4511.0IGHE, RNASE3, IL5, FCER2
11leukotriene b445 60 2413.0CCL11, CCL8, RNASE3, IL5, FCER2
12histamine45 29 2413.0CCL11, CCL13, IGHE, RNASE3, IL5, FCER2
13montelukast45 50 29 1113.9CCL11, IGHE, RNASE3, IL5
14rantes4510.9CCL11, CCL8, RNASE3
15budesonide45 50 1112.9IL5, RNASE3, IGHE, CCL11
16fluticasone propionate45 50 60 1113.9CCL11, IGHE, RNASE3, IL5
17oligonucleotide4510.9CCL1, HLA-DQB1, HLA-DRB1, ITGA6, DST, CD22
18pgd24510.9IL5, RNASE3, IGHE, CCL11
19beclomethasone dipropionate4510.9IGHE, RNASE3, IL5
20anti-histamine4510.9CCL11, IGHE, RNASE3
21methacholine45 1111.9CCL11, IGHE, RNASE3, IL5
22lte44510.9CCL11, RNASE3, IL5
23fmlp4510.9CCL11, CCL8, RNASE3, IL5, FCER2
24toluene diisocyanate4510.9IGHE, RNASE3, IL5
25kalinin4510.9DST, ITGA6, ITGB4
26ccl345 2911.9CCL11, CCL1, CCL26, CCL8
27pranlukast45 29 1112.9CCL11, RNASE3, IL5
28salmeterol45 50 29 1113.9CCL11, RNASE3, IL5
29praziquantel45 1111.9IL5, RNASE3, IGHE
30retinoic acid45 2411.9CCL11, ITGB4, ITGA6, IGHE, RNASE3, IL5
31azelastine45 1111.8IL5, RNASE3, IGHE
32prednisolone45 29 1112.8IL5, RNASE3, IGHE, CCL11
33heparin45 29 11 2413.8CCL11, CCL8, RNASE3
34ltc44510.8CCL11, RNASE3, IL5
35gliadin4510.8IGHE
36herbimycin a45 6011.8CCL11, ITGA6, IL5, FCER2
37dexamethasone45 50 29 1113.8CCL11, CCL13, IGHE, RNASE3, IL5, FCER2
38endotoxin4510.8RNASE3, CCL8
39glutamine4510.8HLA-DQB1, IGHE, IL5, FCER2, SERPINF2
40vegf4510.8CCL11, ITGA6, IGHE, RNASE3, IL5, SERPINF2
41txb24510.8SERPINF2, FCER2, RNASE3
42omalizumab45 1111.7IGHE, IL5
43mometasone furoate45 6011.7RNASE3, IL5
44n-formylmethionyl-leucylphenylalanine4510.7IL5, RNASE3, CCL11
45methotrexate45 50 1112.6HLA-DRB1, ITGA6, IGHE, IL5
46levocabastine45 29 1112.6IL5, RNASE3
47oxatomide4510.5IL5, IGHE
48tele-methylhistamine4510.5RNASE3, IGHE
49ccl445 2911.4CCL11, CCL1, CCL8
50capsaicin45 2911.2IL5, RNASE3, IGHE

GO Terms for genes affiliated with Bullous Pemphigoid

Sources:
16Gene Ontology
See all sources

Cellular components related to Bullous Pemphigoid according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hemidesmosomeGO:03005610.7DST, ITGA6, ITGB4, COL17A1
2basement membraneGO:00560410.7COL17A1, ITGB4, ITGA6, DST, LAD1
3extracellular spaceGO:00561510.6CCL11, CCL1, CCL26, CCL8, CCL13, IL5
4basal plasma membraneGO:00992510.5ITGB4, ITGA6, DST
5MHC class II protein complexGO:04261310.5HLA-DRB1, HLA-DQB1
6extracellular regionGO:00557610.5COL17A1, CCL11, IGHE, IGHG3, RNASE3, IL5
7external side of plasma membraneGO:00989710.2HLA-DRB1, ITGA6, CD22, FCER2

Biological processes related to Bullous Pemphigoid according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1immune responseGO:00695510.9IL5, CCL11, CCL1, CCL26, CCL8, CCL13
2hemidesmosome assemblyGO:03158110.8COL17A1, ITGB4, ITGA6, DST
3chemotaxisGO:00693510.8CCL11, CCL1, CCL26, CCL8, CCL13
4inflammatory responseGO:00695410.8CCL11, CCL26, CCL8, CCL13, IL5
5cellular calcium ion homeostasisGO:00687410.8CCL13, CCL8, CCL1, CCL11
6immunoglobulin production involved in immunoglobulin mediated immune responseGO:00238110.7HLA-DRB1, HLA-DQB1
7humoral immune response mediated by circulating immunoglobulinGO:00245510.7HLA-DRB1, HLA-DQB1
8integrin-mediated signaling pathwayGO:00722910.7ITGB4, ITGA6, DST
9cell junction assemblyGO:03432910.7COL17A1, ITGB4, ITGA6
10cell-matrix adhesionGO:00716010.6COL17A1, ITGB4, ITGA6
11eosinophil chemotaxisGO:04824510.6CCL13, CCL11
12extracellular matrix organizationGO:03019810.5COL17A1, ITGB4, ITGA6, DST
13positive regulation of Rac GTPase activityGO:03285510.5CCL26, CCL11
14cytoskeleton organizationGO:00701010.4DST, CCL13, CCL11
15cell motilityGO:04887010.2DST, ITGB4

Molecular functions related to Bullous Pemphigoid according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MHC class II receptor activityGO:03239510.5HLA-DRB1, HLA-DQB1
2chemokine activityGO:00800910.4CCL13, CCL8, CCL26, CCL1, CCL11
3integrin bindingGO:00517810.2ITGA6, DST, FCER2

Products for genes affiliated with Bullous Pemphigoid

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Bullous Pemphigoid

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