MCID: RCS002
MIFTS: 48

Recessive Dystrophic Epidermolysis Bullosa malady

Skin category

Summaries for Recessive Dystrophic Epidermolysis Bullosa

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64Wikipedia, 33MalaCards
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Wikipedia:64 Epidermolysis bullosa dystrophica or Dystrophic EB (DEB) is an inherited disease affecting the skin and... more...

MalaCards: Recessive Dystrophic Epidermolysis Bullosa, also known as hallopeau-siemens disease, is related to squamous cell carcinoma and amyloidosis. An important gene associated with Recessive Dystrophic Epidermolysis Bullosa is COL7A1 (collagen, type VII, alpha 1), and among its related pathways are TGF-Beta Pathway and Rheumatoid arthritis. The compounds cycloheximide and pge2 have been mentioned in the context of this disorder. Affiliated tissues include skin, lymph node and bone marrow, and related mouse phenotypes are vision/eye and endocrine/exocrine gland.

Aliases & Classifications for Recessive Dystrophic Epidermolysis Bullosa

Sources:
20GeneTests, 22GTR, 61UMLS
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Classifications:

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


Aliases & Descriptions:

recessive dystrophic epidermolysis bullosa 20 22
hallopeau-siemens disease 61


Related Diseases for Recessive Dystrophic Epidermolysis Bullosa

Sources:
17GeneCards, 18GeneDecks
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Diseases in the Recessive Dystrophic Epidermolysis Bullosa family:

dominant dystrophic epidermolysis bullosa

Diseases related to Recessive Dystrophic Epidermolysis Bullosa via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 181)
idRelated DiseaseScoreTop Affiliating Genes
1squamous cell carcinoma31.6TP53, IVL, FLG, ARG1, KRT1, JUN
2amyloidosis30.7SAA4
3epidermolysis bullosa simplex30.5FLG, IVL, KRT1
4basal cell carcinoma30.5IVL, MMP1, TP53, MMP3
5osteoporosis30.5JUN, TGFB1, IGFBP3, MMP3
6severe generalized recessive dystrophic epidermolysis bullosa10.9
7recessive dystrophic epidermolysis bullosa, generalized, other10.8
8epidermolysis bullosa dystrophica, ar10.8
9centripetalis recessive dystrophic epidermolysis bullosa10.6
10dominant dystrophic epidermolysis bullosa10.5
11marfan syndrome10.4
12squamous cell papilloma10.4
13enamel caries10.4
14hypercalcemia10.4
15hidrocystoma10.4
16n syndrome10.4
17dwarfism10.4
18char syndrome10.4
19epidermolysis bullosa, pretibial10.4
20left ventricular noncompaction10.4
21amyloidosis, secondary10.4
22amyloidosis, renal10.4
23epidermolysis bullosa pruriginosa10.0COL7A1
24gingivitis10.0MMP1
25oral submucous fibrosis10.0MMP1
26keratoacanthoma10.0IVL
27dementia10.0MMP3
28chordoma10.0KRT1
29cholangitis10.0GGT1
30deficiency anemia10.0GHRH
31myopia 610.0FBN1
32mitral valve prolapse10.0FBN1
33hyperprolactinemia10.0GHRH
34aortic aneurysm10.0FBN1
35smooth muscle tumor10.0IVL
36cataract10.0MMP3
37moyamoya disease10.0FGF2
38atopic dermatitis10.0FLG
39myeloma10.0FGF2
40kindler syndrome10.0COL7A1
41bullous keratopathy10.0FBN1
42epidermolysis bullosa10.0COL7A1, FLG
43gastric ulcer10.0FGF2
44cutis laxa10.0FBN1
45rheumatic disease10.0FBN1
46cholestasis10.0GGT1
47dermatitis10.0FLG, IVL
48uterine fibroid10.0IVL
49leiomyoma10.0MMP3, IVL
50myocardial infarction10.0SAA4

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



Diseases related to recessive dystrophic epidermolysis bullosa

Clinical Features for Recessive Dystrophic Epidermolysis Bullosa

Drugs & Therapeutics for Recessive Dystrophic Epidermolysis Bullosa

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Recessive Dystrophic Epidermolysis Bullosa

Drug clinical trials:

Search ClinicalTrials for Recessive Dystrophic Epidermolysis Bullosa

Search NIH Clinical Center for Recessive Dystrophic Epidermolysis Bullosa

Search CenterWatch for Recessive Dystrophic Epidermolysis Bullosa

Genetic Tests for Recessive Dystrophic Epidermolysis Bullosa

Sources:
20GeneTests, 22GTR
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Genetic tests related to Recessive Dystrophic Epidermolysis Bullosa:

id Genetic test Affiliating Genes
1 Recessive Dystrophic Epidermolysis Bullosa20 22

Anatomical Context for Recessive Dystrophic Epidermolysis Bullosa

Sources:
33MalaCards
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MalaCards organs/tissues related to Recessive Dystrophic Epidermolysis Bullosa:

33
Skin, Lymph node, Bone marrow, Breast, T cells, Pons

Animal Models for Recessive Dystrophic Epidermolysis Bullosa or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Recessive Dystrophic Epidermolysis Bullosa

Sources:
51PubMed
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Articles related to Recessive Dystrophic Epidermolysis Bullosa:

(show top 50)    (show all 303)
idTitleAuthorsYear
1
Long-term Follow-up of Cultured Epidermal Autograft in a Patient with Recessive Dystrophic Epidermolysis Bullosa. (23756557)
2014
2
Use of cetuximab as an adjuvant agent to radiotherapy and surgery in recessive dystrophic epidermolysis bullosa with squamous cell carcinoma. (23398414)
2013
3
Recurring breast cancer in a patient with recessive dystrophic epidermolysis bullosa. (24416756)
2013
4
Multiple pigmented eccrine hidrocystomas within scars in a patient with recessive dystrophic epidermolysis bullosa. (24124844)
2013
5
Systemic protein therapy for recessive dystrophic epidermolysis bullosa: how far are we from clinical translation? (23760051)
2013
6
Recessive dystrophic epidermolysis bullosa: identification of a novel COL7A1 mutation of D44N. (22854212)
2012
7
Stem cell therapies for recessive dystrophic epidermolysis bullosa. (20716209)
2010
8
Replenishment of type VII collagen and re-epithelialization of chronically ulcerated skin after intradermal administration of allogeneic mesenchymal stromal cells in two patients with recessive dystrophic epidermolysis bullosa. (20230217)
2010
9
Revertant mosaicism in recessive dystrophic epidermolysis bullosa. (20357813)
2010
10
A case of non-hallopeau-siemens recessive dystrophic epidermolysis bullosa. (20548856)
2009
11
Cetuximab therapy of metastasizing cutaneous squamous cell carcinoma in a patient with severe recessive dystrophic epidermolysis bullosa. (19439919)
2009
12
Denuded congenital lesions: recessive dystrophic epidermolysis bullosa. (19450397)
2009
13
Recessive dystrophic epidermolysis bullosa: presentation of two forms. (18627704)
2008
14
Non-endoscopic percutaneous gastrostomy placement in children with recessive dystrophic epidermolysis bullosa. (18094979)
2008
15
Recessive dystrophic epidermolysis bullosa associated with dilated cardiomyopathy. (17553043)
2007
16
Two novel heterozygous mutations in COL7A1 in a Chinese patient with recessive dystrophic epidermolysis bullosa of Hallopeau-Siemens type. (15949010)
2005
17
Construction of skin equivalents for gene therapy of recessive dystrophic epidermolysis bullosa. (15585108)
2004
18
A novel insertion mutation in COL7A1 identified in Hallopeau-Siemens recessive dystrophic epidermolysis bullosa. (12735646)
2003
19
Are children with recessive dystrophic epidermolysis bullosa of low birthweight? (12869148)
2003
20
Surgical treatment of recessive dystrophic epidermolysis bullosa in the hand: use of tissue-engineered skin (Apligraf). (12671394)
2003
21
Endoscopic dilatation of esophageal strictures in recessive dystrophic epidermolysis bullosa: new equipment, new techniques. (12050577)
2002
22
A 13-year-old girl with recessive dystrophic epidermolysis bullosa presenting with squamous cell carcinoma. (12383103)
2002
23
Reversible acute global left ventricular dysfunction in a patient with autosomal recessive dystrophic epidermolysis bullosa. (11488288)
2001
24
Splice site mutation in the type VII collagen gene (COL7A1) in a Taiwanese family with recessive dystrophic epidermolysis bullosa. (11000732)
2000
25
A -96C-->T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa. (10980546)
2000
26
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
27
Recurrent molecular abnormalities in type VII collagen in Southern Italian patients with recessive dystrophic epidermolysis bullosa. (10354186)
1999
28
Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa. (9804332)
1998
29
Basic fibroblast growth factor: a missing link between collagen VII, increased collagenase, and squamous cell carcinoma in recessive dystrophic epidermolysis bullosa. (9562977)
1998
30
Phenytoin reduces the contraction of recessive dystrophic epidermolysis bullosa fibroblast populated collagen gels. (9076961)
1997
31
Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa. (9444387)
1997
32
A common insertion mutation in COL7A1 in two Italian families with recessive dystrophic epidermolysis bullosa. (8618004)
1996
33
Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa. (7883979)
1995
34
Fibrillin immunoreactivity is associated with normal or fragmented elastic microfibrils at the dermal-epidermal junction in recessive dystrophic epidermolysis bullosa. (7947198)
1994
35
Chronic recurrent esophageal strictures treated with balloon dilation in children with autosomal recessive epidermolysis bullosa dystrophica. (8503396)
1993
36
Recessive dystrophic epidermolysis bullosa keratinocytes synthesize type VII collagen alpha chains of normal molecular size but the anchoring fibril assembly is impaired. (7685597)
1993
37
Image interpretation session: 1992. Esophageal strictures and squamous cell carcinoma of the maxillary sinus and palate in recessive epidermolysis bullosa dystrophica. (8426919)
1993
38
Anchoring fibrils, collagen VII, and neutral metalloproteases in recessive dystrophic epidermolysis bullosa inversa. (1431215)
1992
39
Lack of efficacy of phenytoin in recessive dystrophic epidermolysis bullosa. Epidermolysis Bullosa Study Group. (1608407)
1992
40
A case of recessive dystrophic epidermolysis bullosa associated with dwarfism with special reference to pathophysiological role of growth hormone]. (2332081)
1990
41
Collagenase expression in skin fibroblasts from families with recessive dystrophic epidermolysis bullosa. (2535863)
1989
42
The carboxyl-terminal domain of type VII collagen is present at the basement membrane in recessive dystrophic epidermolysis bullosa. (2649597)
1989
43
Type VII collagen is a normal component of epidermal basement membrane, which shows altered expression in recessive dystrophic epidermolysis bullosa. (3283248)
1988
44
Protease inhibitor therapy for recessive dystrophic epidermolysis bullosa. In vitro effect and clinical trial with camostat mesylate. (3385039)
1988
45
A perspective on the role of collagenase in recessive dystrophic epidermolysis bullosa. (2835015)
1988
46
Collagenase in recessive dystrophic epidermolysis bullosa. (3008624)
1985
47
Proteases are responsible for blister formation in recessive dystrophic epidermolysis bullosa and epidermolysis bullosa simplex. (3890916)
1985
48
Recessive dystrophic epidermolysis bullosa. The anaesthetic management of a case for major surgery. (6859480)
1983
49
Epidermolysis bullosa dystrophica recessive: oral surgery and anesthetic considerations. (6957566)
1982
50
Epidermolysis bullosa dystrophica-recessive: a possible role of anchoring fibrils in the pathogenesis. (1151111)
1975

Genetic Variations for Recessive Dystrophic Epidermolysis Bullosa

Expression for genes affiliated with Recessive Dystrophic Epidermolysis Bullosa

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

Search GEO for disease gene expression data for Recessive Dystrophic Epidermolysis Bullosa.

Pathways for genes affiliated with Recessive Dystrophic Epidermolysis Bullosa

Sources:
52QIAGEN, 30KEGG, 38NCBI BioSystems Database, 54Reactome, 12EMD Millipore
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Pathways related to Recessive Dystrophic Epidermolysis Bullosa according to GeneCards/GeneDecks:

(show all 24)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.3GHRH
210.1JUN
39.9IGFBP3, CDKN2A
4
Hide members
9.5COL7A1, FBN1, GHRH, FGF2
59.5TP53, MMP1, JUN
69.4JUN, CDKN2A, TP53
79.4CDKN2A, TP53, JUN
8
Hide members
9.4TP53, CDKN2A, TGFB1
9
Hide members
9.4TGFB1, CDKN2A, TP53
109.4JUN, IVL, MMP1
119.3TGFB1, RXRA
12
Hide members
9.2MMP3, FGF2, MMP1, FBN1, COL7A1
13
G-protein signaling Ras family GTPases in kinase cascades (scheme)
Hide members
9.2TP53, MMP1, JUN, MMP3
14
Hide members
9.2JUN, FBN1, MMP3, MMP1, COL7A1
15
Hide members
9.1TP53, FGF2, JUN, TGFB1
16
Hide members
8.9CDKN2A, JUN, GHRH, IVL, KRT1
17
Hide members
8.8TP53, DAPK3, RXRA
188.7TGFB1, TP53, CDKN2A, IGFBP3, JUN
198.7TP53, MMP3, IGFBP3, RXRA
20
Hide members
8.1CDKN2A, FBN1, TGFB1, TP53, FGF2, GHRH
21
Hide members
8.0FGF2, JUN, GHRH, CDKN2A, MMP3, MMP1
227.9TGFB1, TP53, JUN, FGF2, IGFBP3, RXRA
23
Hide members
7.3RXRA, GHRH, CDKN2A, FGF2, DAPK3, JUN
247.2TGFB1, RXRA, JUN, CDKN2A, FGF2, DAPK3

Compounds for genes affiliated with Recessive Dystrophic Epidermolysis Bullosa

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 50PharmGKB, 60Tocris Bioscience, 24HMDB, 2BitterDB
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Compounds related to Recessive Dystrophic Epidermolysis Bullosa according to GeneCards/GeneDecks:

(show top 50)    (show all 120)
idCompoundScoreTop Affiliating Genes
1cycloheximide4510.7GHRH
2pge24510.5TGFB1
3estrogen4510.4IVL
4sodium dodecylsulfate459.8KRT1, IVL, FBN1
5clonidine45 29 1111.7GHRH, IGFBP3, FGF2
6infliximab45 50 1111.6MMP1, MMP3, FLG, FGF2
7gold459.5FBN1, GHRH, IVL, MMP3
8paclitaxel45 50 1111.3IGFBP3, TGFB1, CDKN2A, TP53
9glutamate459.2GHRH, ARG1, FBN1, RXRA
10tamoxifen45 50 29 1112.2GHRH, GGT1, TGFB1, JUN
11hematoxylin459.1CDKN2A, FLG, IVL, MMP3, MMP1, KRT1
12gf 109203x45 6010.1JUN, IVL, FGF2, MMP1, FLG
13arsenite45 2410.1TP53, GGT1, TGFB1, CDKN2A
14vitamin a45 11 2411.1MMP1, RXRA, FGF2
15tgf beta1459.1FBN1, IGFBP3, FGF2, TGFB1, MMP1, MMP3
16cyclosporin a45 29 6011.1IGFBP3, IVL, FGF2, MMP1, JUN
17doxycycline45 1110.1MMP1, CDKN2A, FGF2, MMP3
18bromodeoxyuridine459.1TGFB1, KRT1, IVL, FGF2, FLG
19paraffin459.0MMP1, IVL, TGFB1, KRT1, FGF2, MMP3
20valine459.0ARG1, COL7A1, GGT1, KRT1, CDKN2A, IGFBP3
21thyroxine45 249.8TGFB1, FGF2, GHRH, IGFBP3, GGT1
22urea45 11 2410.8GGT1, ARG1, FLG, GHRH, IVL, MMP3
23betacarotene458.8GGT1, MMP1, IGFBP3, IVL, TGFB1
24chloramphenicol45 2 1110.7CDKN2A, IGFBP3, COL7A1, RXRA, IVL
25ascorbic acid45 249.6FLG, MMP3, FBN1, MMP1, FGF2, IGFBP3
26pd 98,059458.6IVL, FGF2, MMP3, JUN, MMP1, TGFB1
27n acetylcysteine458.6JUN, CDKN2A, MMP3, MMP1, GGT1, TP53
28hyaluronic acid45 249.5MMP3, FGF2, IGFBP3, FBN1, TGFB1, MMP1
29glucose458.5SAA4, GHRH, IGFBP3, IVL, CDKN2A
30sb 20358045 609.4JUN, IVL, FGF2, TP53, MMP3, MMP1
31vitamin d458.4MMP3, JUN, RXRA, GHRH, IVL, IGFBP3
32methotrexate45 50 1110.3TGFB1, IGFBP3, CDKN2A, GGT1, MMP1, MMP3
33retinoid458.2JUN, RXRA, KRT1, FLG, IVL, IGFBP3
34steroid458.2FLG, RXRA, KRT1, CDKN2A, IGFBP3, GHRH
35creatinine458.1MMP3, SAA4, TGFB1, IGFBP3, GGT1, MMP1
36nicotine45 50 29 1111.1GGT1, IVL, CDKN2A, KRT1, FGF2, FLG
3712-o-tetradecanoylphorbol 13-acetate458.1TGFB1, JUN, KRT1, IVL, MMP1, RXRA
38dexamethasone45 50 29 1111.0GGT1, GHRH, FGF2, TGFB1, JUN, CDKN2A
39arginine457.9ARG1, FLG, GHRH, IGFBP3, CDKN2A, KRT1
40progesterone45 60 29 11 2411.8FBN1, TP53, MMP1, RXRA, GHRH, IGFBP3
41curcumin457.8MMP3, TGFB1, TP53, JUN, GGT1, MMP1
42calcitriol45 60 11 2410.8IVL, FLG, JUN, TGFB1, IGFBP3, FGF2
43testosterone45 60 11 2410.7GHRH, GGT1, CDKN2A, KRT1, MMP1, IGFBP3
44thymidine45 248.7FGF2, IGFBP3, IVL, TGFB1, RXRA, JUN
45vegf457.6MMP3, MMP1, TP53, TGFB1, FGF2, CDKN2A
46cysteine457.6IGFBP3, IVL, FLG, FBN1, JUN, COL7A1
47cholesterol45 29 11 2410.2IGFBP3, GGT1, MMP3, CDKN2A, IVL, GHRH
48lipid456.9FLG, SAA4, GGT1, RXRA, KRT1, FBN1
49serine456.5TGFB1, GHRH, COL7A1, JUN, RXRA, FBN1
50retinoic acid45 247.3JUN, TGFB1, FLG, IVL, IGFBP3, TP53

GO Terms for genes affiliated with Recessive Dystrophic Epidermolysis Bullosa

Sources:
16Gene Ontology
See all sources

Cellular components related to Recessive Dystrophic Epidermolysis Bullosa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:0055789.3FBN1, MMP3, TGFB1, MMP1
2extracellular spaceGO:0056158.3FBN1, GHRH, IGFBP3, FGF2, MMP3, TGFB1
3extracellular regionGO:0055767.7TGFB1, COL7A1, SAA4, FBN1, GHRH, IGFBP3

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1cellular response to dexamethasone stimulusGO:07154910.1ARG1, TGFB1
2collagen catabolic processGO:0305749.9COL7A1, MMP3, MMP1
3SMAD protein import into nucleusGO:0071849.9JUN, TGFB1
4positive regulation of endothelial cell proliferationGO:0019389.9FGF2, ARG1, JUN
5positive regulation of histone deacetylationGO:0310659.9TP53, TGFB1
6negative regulation of neuroblast proliferationGO:0074069.9TP53, TGFB1
7extracellular matrix disassemblyGO:0226179.9MMP1, MMP3, COL7A1
8positive regulation of insulin-like growth factor receptor signaling pathwayGO:0435689.8IGFBP3, GHRH
9negative regulation of blood vessel endothelial cell migrationGO:0435379.8TGFB1, FGF2
10replicative senescenceGO:0903999.8CDKN2A, TP53
11positive regulation of cell cycle arrestGO:0711589.7TGFB1, TP53, CDKN2A
12Ras protein signal transductionGO:0072659.6TP53, FGF2, CDKN2A
13hyaluronan catabolic processGO:0302149.5TGFB1, FGF2
14negative regulation of cell growthGO:0303089.4CDKN2A, FGF2, TP53, TGFB1
15extracellular matrix organizationGO:0301989.2TGFB1, MMP1, MMP3, FGF2, FBN1, COL7A1
16negative regulation of transcription, DNA-dependentGO:0458929.0JUN, CDKN2A, FGF2, TP53, TGFB1
17positive regulation of transcription, DNA-dependentGO:0458939.0JUN, CDKN2A, FGF2, TP53, TGFB1
18negative regulation of cell proliferationGO:0082858.8JUN, IGFBP3, CDKN2A, FGF2, TP53, TGFB1
19positive regulation of transcription from RNA polymerase II promoterGO:0459448.2JUN, RXRA, CDKN2A, FGF2, TP53, TGFB1

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

idNameGO IDScoreTop Affiliating Genes
1MDM2/MDM4 family protein bindingGO:0973719.8TP53, CDKN2A

Products for genes affiliated with Recessive Dystrophic Epidermolysis Bullosa

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Sources for Recessive Dystrophic Epidermolysis Bullosa

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