MCID: EPD016
MIFTS: 59

Epidermolysis Bullosa malady

Skin diseases category

Summaries for Epidermolysis Bullosa

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42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 Epidermolysis bullosa is a group of genetic conditions that cause the skin to be very fragile and to blister easily. erosions and blisters form in response to minor injury or friction, such as rubbing or scratching. there are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa epidermolysis bullosa simplex junctional epidermolysis bullosa kindler syndromeidentifying the exact type is difficult because there are many subtypes for this condition. most types of epidermolysis bullosa are inherited. the inheritance pattern may be dominant or recessive.   last updated: 9/7/2011

MalaCards: Epidermolysis Bullosa, also known as acantholysis bullosa, is related to epidermolysis bullosa acquisita and epidermolysis bullosa simplex. An important gene associated with Epidermolysis Bullosa is KRT14 (keratin 14), and among its related pathways are Glucocorticoid receptor regulatory network and Anchoring fibril formation. The drugs phenytoin and phenytoin sodium and the compounds kalinin and calcipotriol have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and bone, and related mouse phenotypes are integument and mortality/aging.

Wikipedia:63 Epidermolysis bullosa (EB) is an inherited connective tissue disease causing blisters in the skin and... more...

Aliases & Classifications for Epidermolysis Bullosa

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 60UMLS, 34MeSH, 56SNOMED-CT, 39NCIt
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Classifications:

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


Aliases & Descriptions:

epidermolysis bullosa 8 42 10 44 60
acantholysis bullosa 8


External Ids:

Disease Ontology8 DOID:2730
MeSH34 D004820
SNOMED-CT56 61003004, 205580008
NCIt39 C67383

Related Diseases for Epidermolysis Bullosa

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17GeneCards, 18GeneDecks
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Diseases related to Epidermolysis Bullosa via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 230)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa acquisita32.0ITGB4, COL17A1, DST, LAD1, LAMA3, LAMC2
2epidermolysis bullosa simplex32.0COL17A1, KRT14, KRT1, KRT5, PLEC, DST
3junctional epidermolysis bullosa32.0LAMC2, LAMB3, LAMA3, DST, ITGA6, ITGB4
4epidermolysis bullosa dystrophica31.8MMP1, FLG, COL7A1
5epidermolysis bullosa with pyloric atresia31.5ITGA6, ITGB4
6squamous cell carcinoma31.4FLG, ITGA6, ITGB4, COL17A1, COL7A1, IVL
7bullous pemphigoid31.4DST, ITGA6, COL17A1, COL7A1
8junctional epidermolysis bullosa, non-herlitz type31.2COL17A1, ITGB4, LAMB3
9junctional epidermolysis bullosa, herlitz type31.1LAMA3, LAMB3, LAMC2
10epidermolysis bullosa simplex, generalized31.1KRT5, KRT14
11epidermolysis bullosa simplex, localized31.0KRT5, KRT14
12epidermolysis bullosa simplex, dowling-meara type31.0KRT5, KRT14
13cicatricial pemphigoid31.0LAMC2, LAMA3, LAD1, DST, ITGA6, ITGB4
14epidermolysis bullosa pruriginosa30.8COL7A1
15epidermolysis bullosa simplex with mottled pigmentation30.8KRT5
16epidermolysis bullosa simplex with pyloric atresia30.7ITGA6, ITGB4
17dermatitis30.6IVL, FLG
18epidermolytic hyperkeratosis30.5FLG, KRT5, KRT1
19psoriasis30.5FLG, IVL, DST, KRT5, KRT1, KRT14
20skin disease30.5COL17A1, KRT14
21kindler syndrome30.5ITGB4, COL7A1
22lichen planus30.3DST, IVL, FLG, COL17A1, KRT1, LAMC2
23pemphigus30.1DST
24basal cell carcinoma30.1COL17A1, ITGB4, IVL, DST, MMP1, LAMC2
25keratosis30.1KRT1, IVL, FLG
26keratoacanthoma30.1IVL
27breast cancer30.1ITGB4, ITGA6, IVL, MMP1, KRT5, KRT1
28sarcoma30.1LAMC2
29congenital ichthyosiform erythroderma30.1IVL, FLG
30esophagitis10.8
31muscular dystrophy10.8
32generalized dominant dystrophic epidermolysis bullosa10.7
33severe generalized recessive dystrophic epidermolysis bullosa10.6
34epidermolysis bullosa dystrophica, ar10.6
35lupus erythematosus10.6
36epidermolysis bullosa dystrophica, ad10.6
37amyloidosis10.6
38epidermolysis bullosa, lethal acantholytic10.6
39epidermolysis bullosa simplex, ogna type10.6
40epidermolysis bullosa simplex with muscular dystrophy10.6
41crohn's disease10.6
42epidermolysis bullosa, pretibial10.6
43systemic lupus erythematosus10.5
44recessive dystrophic epidermolysis bullosa, generalized, other10.5
45collagen disease10.5
46laryngitis10.5
47epidermolysis bullosa, junctional, with pyloric stenosis10.5
48epidermolysis bullosa simplex-mp10.5
49epidermolysis bullosa simplex with anodontia/hypodontia10.5
50centripetalis recessive dystrophic epidermolysis bullosa10.5

Graphical network of the top 20 diseases related to Epidermolysis Bullosa:



Diseases related to epidermolysis bullosa

Clinical Features for Epidermolysis Bullosa

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Drugs & Therapeutics for Epidermolysis Bullosa

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Epidermolysis Bullosa

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Inferred drug relations via UMLS60/NDF-RT40:

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Genetic Tests for Epidermolysis Bullosa

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Anatomical Context for Epidermolysis Bullosa

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32MalaCards
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MalaCards organs/tissues related to Epidermolysis Bullosa:

32
Skin, Testes, Bone, Bone marrow, Colon, Lymph node, Breast, B cells, T cells, Kidney, Trachea, Thyroid, Heart, Tongue, Lung, Eye, Pons

Animal Models for Epidermolysis Bullosa or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Epidermolysis Bullosa:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:001077110.4LAMB3, COL7A1, COL17A1, ITGB4, ITGA6, DST
2MP:001076810.4DST, FLG, ITGA6, ITGB4, COL17A1, PLEC
3MP:000538110.4COL7A1, ITGB4, ITGA6, DST, KRT5, KRT14
4MP:000538210.2COL7A1, ITGB4, ITGA6, FLG, KRT5, LAMA3

Publications for Epidermolysis Bullosa

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50PubMed
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Articles related to Epidermolysis Bullosa:

(show top 50)    (show all 1818)
idTitleAuthorsYear
1
GM-CSF Modulates Autoantibody Production and Skin Blistering in Experimental Epidermolysis Bullosa Acquisita. (24337383)
2014
2
PNA as a potential modulator of COL7A1 gene expression in dominant dystrophic epidermolysis bullosa: a physico-chemical study. (24121392)
2013
3
TALEN-based gene correction for epidermolysis bullosa. (23546300)
2013
4
Epidermolysis bullosa acquisita. (23368767)
2013
5
Rat model for dominant dystrophic epidermolysis bullosa: glycine substitution reduces collagen VII stability and shows gene-dosage effect. (23717576)
2013
6
ITGB4-associated non-Herlitz junctional epidermolysis bullosa: report of two new cases carrying two novel ITGB4 mutations. (23013259)
2013
7
Squamous cell carcinoma as a complication of epidermolysis bullosa. (22964184)
2012
8
Epidermolysis bullosa pruriginosa: further clarification of the phenotype. (23106673)
2012
9
Dystrophic epidermolysis bullosa pruriginosa with autoantibodies against collagen VII. (22481070)
2012
10
Squamous cell carcinoma and junctional epidermolysis bullosa. (22507578)
2012
11
Epidermolysis bullosa simplex, Dowling-Meara type with eruptive nevi. (22909366)
2012
12
Development of NC1 and NC2 domains of type VII collagen ELISA for the diagnosis and analysis of the time course of epidermolysis bullosa acquisita patients. (21482078)
2011
13
Dental and anesthetic management of a child with epidermolysis bullosa. (21911956)
2011
14
Mutational survey of recessive dystrophic epidermolysis bullosa in Tunisian families unveils a spectrum of private, ethnic specific and world wide recurrent mutations. (20060269)
2010
15
Epidermolysis bullosa simplex. (19945613)
2010
16
Dilated cardiomyopathy in epidermolysis bullosa: a retrospective, multicenter study. (20609141)
2010
17
Epidermolysis bullosa pruriginosa in association with lichen planopilaris. (20055845)
2009
18
Death from colonic disease in epidermolysis bullosa dystrophica. (16480504)
2006
19
Epidermolysis bullosa acquisita. (16481730)
2006
20
Paraneoplastic epidermolysis bullosa acquisita associated with multiple myeloma. (16927739)
2006
21
Large atypical melanocytic nevi in recessive dystrophic epidermolysis bullosa: clinicopathological, ultrastructural, and dermoscopic study. (16060872)
2005
22
Recessive dystrophic epidermolysis bullosa associated with mesangioproliferative glomerulonephritis and multifocal necrotizing leucoencephalopathy of the pons. (15606525)
2004
23
Reversible acute global left ventricular dysfunction in a patient with autosomal recessive dystrophic epidermolysis bullosa. (11488288)
2001
24
Herlitz junctional epidermolysis bullosa presenting at birth with anonychia: a case report and review of H-JEB. (11438002)
2001
25
Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: analysis of transcript levels in dermal fibroblasts. (10408773)
1999
26
Biology of anchoring fibrils: lessons from dystrophic epidermolysis bullosa. (10367730)
1999
27
A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosa. (10206718)
1999
28
Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa. (9457913)
1998
29
Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease. (9674902)
1998
30
Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling. (9008239)
1997
31
Phenytoin reduces the contraction of recessive dystrophic epidermolysis bullosa fibroblast populated collagen gels. (9076961)
1997
32
Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases. (9470905)
1997
33
Dominant dystrophic epidermolysis bullosa albopapuloidea Pasini -- ultrastructural observations of albopapuloid lesions and a type VII collagen DNA polymorphism study of a family. (9228218)
1997
34
Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1). (8900535)
1996
35
Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. (8824879)
1996
36
Absence of detectable alpha 6 integrin in pyloric atresia-junctional epidermolysis bullosa syndrome. Application for prenatal diagnosis in a family at risk for recurrence. (8712842)
1996
37
Keratin 14 gene mutations in patients with epidermolysis bullosa simplex. (7561171)
1995
38
Genetic linkage between the collagen type VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features. (7738360)
1995
39
Childhood epidermolysis bullosa acquisita. (7857848)
1994
40
Hereditary epidermolysis bullosa: towards classification and genetic counseling based upon identification of molecular defects]. (7530560)
1994
41
The genetic basis of Weber-Cockayne epidermolysis bullosa simplex. (7688477)
1993
42
Anterior corneal disease of epidermolysis bullosa simplex. (8470983)
1993
43
Recessive dystrophic epidermolysis bullosa--management of hand deformities. (8110717)
1993
44
Epidermolysis bullosa acquisita and associated symptomatic esophageal webs. (1998368)
1991
45
Direct immunofluorescence studies of sodium chloride-separated skin in the differential diagnosis of bullous pemphigoid and epidermolysis bullosa acquisita. (2180996)
1990
46
Type VII collagen and 19-DEJ-1 antigen. Comparison of expression in inversa and generalized variants of recessive dystrophic epidermolysis bullosa. (2256686)
1990
47
Severe ocular involvement in a patient with epidermolysis bullosa acquisita. (3819091)
1987
48
Antenatal diagnosis of recessive dystrophic epidermolysis bullosa: collagenase expression in cultured fibroblasts as a biochemical marker. (3021861)
1986
49
Anesthetic management of emergency cesarean section in a patient with epidermolysis bullosa dystrophica polydysplastica. (565172)
1978
50
Epidermolysis bullosa dystrophica with albo-papuloid dystrophy of Pasini. (18208053)
1948

Genetic Variations for Epidermolysis Bullosa

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Expression for genes affiliated with Epidermolysis Bullosa

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Epidermolysis Bullosa

Search GEO for disease gene expression data for Epidermolysis Bullosa.

Pathways for genes affiliated with Epidermolysis Bullosa

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37NCBI BioSystems Database, 53Reactome, 29KEGG, 4Cell Signaling Technology, 12EMD Millipore, 51QIAGEN
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Pathways related to Epidermolysis Bullosa according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.5KRT14, MMP1, KRT5
210.5LAMB3, LAMA3, COL7A1, LAMC2
310.5LAMC2, LAMB3, LAMA3
410.5PLEC, ITGA6, ITGB4
5
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10.5LAMB3, ITGA6
610.5ITGB4, COL17A1, ITGA6
710.5LAMB3, LAMA3, LAMC2, ITGA6
810.5KRT14, KRT1, KRT5, PLEC, DST
910.5LAMC2, LAMB3, LAMA3, ITGA6, ITGB4
10
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10.5LAMC2, LAMB3, LAMA3, ITGA6, ITGB4
11
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10.5ITGB4, LAMA3, LAMC2, ITGA6, LAMB3
12
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10.5LAMA3, LAMB3, LAMC2, ITGB4, ITGA6
13
Cell adhesion ECM remodeling
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10.5LAMB3, MMP1, LAMA3, LAMC2
14
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10.5LAMC2, COL7A1, COL17A1, ITGB4, ITGA6, LAMA3
15
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10.5COL7A1, LAMC2, LAMA3, ITGA6, ITGB4, COL17A1
1610.5PLEC, KRT5, KRT14, LAMB3, LAMC2, DST
17
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10.5LAMB3, LAMC2, COL17A1, ITGB4, ITGA6, DST
1810.5ITGA6, LAMC2, LAMB3, MMP1, LAMA3
1910.4LAMB3, DST, PLEC, LAMA3, LAMC2, COL17A1
20
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10.4COL7A1, COL17A1, ITGB4, ITGA6, MMP1, LAMC2
2110.4LAMA3, ITGB4, IVL, MMP1
22
Hide members
10.4PLEC, COL7A1, MMP1, LAMB3, DST, LAMC2

Compounds for genes affiliated with Epidermolysis Bullosa

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44Novoseek, 59Tocris Bioscience, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 2BitterDB
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Compounds related to Epidermolysis Bullosa according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1kalinin4410.8LAMC2, LAMB3, LAMA3, KRT5, DST, ITGA6
2calcipotriol44 59 28 1113.8ITGB4, FLG, IVL, KRT5, KRT14
3retinoid4410.8ITGA6, FLG, IVL, MMP1, KRT5, KRT1
4hematoxylin4410.8FLG, IVL, MMP1, KRT1, KRT14
5paraffin4410.8IVL, DST, MMP1, KRT5, KRT1, KRT14
6retinoic acid44 2411.8ITGB4, ITGA6, FLG, IVL, MMP1, KRT5
7urea44 11 2412.8KRT14, KRT5, IVL, FLG
8serine4410.7COL7A1, COL17A1, ITGB4, FLG, IVL, MMP1
912-o-tetradecanoylphorbol 13-acetate4410.7IVL, DST, MMP1, KRT5, KRT1
10gold4410.7COL17A1, IVL, DST, LAMC2
11bromodeoxyuridine4410.7KRT14, KRT1, IVL, FLG
12proline4410.7COL17A1, IVL, KRT5, KRT1, KRT14
13nicotine44 49 28 1113.7FLG, IVL, MMP1, KRT1
14phenylalanine4410.7COL17A1, KRT5, KRT1, KRT14
15calcium44 49 11 2413.7COL17A1, ITGB4, FLG, IVL, DST, MMP1
16tyrosine4410.7COL17A1, ITGB4, ITGA6, FLG, IVL, KRT5
17dithranol4410.6IVL, FLG
18arsenate4410.6IVL, FLG
19progesterone44 59 28 11 2414.6ITGA6, MMP1, KRT5, KRT1, KRT14
20sodium dodecylsulfate4410.5KRT1, MMP1, IVL
21hpvs4410.5KRT14, ITGA6
22acitretin44 1111.5KRT5, IVL
23gf 109203x44 5911.3FLG, IVL, MMP1
24hydrocortisone44 2 59 1113.2KRT14, MMP1, IVL

GO Terms for genes affiliated with Epidermolysis Bullosa

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16Gene Ontology
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Cellular components related to Epidermolysis Bullosa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:00560410.6LAMA3, COL7A1, COL17A1, ITGB4, ITGA6, DST
2hemidesmosomeGO:03005610.5DST, ITGA6, ITGB4, COL17A1, PLEC
3laminin-5 complexGO:00561010.5LAMA3, LAMB3, LAMC2
4keratin filamentGO:04509510.5KRT14, KRT1, KRT5
5intermediate filamentGO:00588210.4DST, KRT14, KRT5, BFSP2, FLG
6basal plasma membraneGO:00992510.2DST, ITGB4, ITGA6

Biological processes related to Epidermolysis Bullosa according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1hemidesmosome assemblyGO:03158110.7LAMC2, COL17A1, LAMB3, LAMA3, KRT14, KRT5
2cell junction assemblyGO:03432910.7LAMB3, LAMA3, KRT14, KRT5, PLEC, ITGA6
3epidermis developmentGO:00854410.6COL7A1, COL17A1, KRT5, KRT14, LAMA3, LAMB3
4extracellular matrix organizationGO:03019810.6COL7A1, COL17A1, ITGB4, ITGA6, DST, MMP1
5cell adhesionGO:00715510.6COL7A1, ITGB4, DST, LAMA3, LAMB3, LAMC2
6intermediate filament cytoskeleton organizationGO:04510410.6DST, BFSP2
7integrin-mediated signaling pathwayGO:00722910.5ITGB4, ITGA6, DST
8cell motilityGO:04887010.5DST, ITGB4
9collagen catabolic processGO:03057410.5MMP1, COL17A1, COL7A1
10cell-matrix adhesionGO:00716010.4COL17A1, ITGB4, ITGA6
11extracellular matrix disassemblyGO:02261710.2MMP1, COL17A1, COL7A1

Molecular functions related to Epidermolysis Bullosa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00520010.5KRT14, KRT5, BFSP2
2structural molecule activityGO:00519810.1LAMB3, LAMA3, LAD1, KRT1, IVL, FLG

Products for genes affiliated with Epidermolysis Bullosa

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  • Antibodies
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Sources for Epidermolysis Bullosa

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet