MCID: EPD003
MIFTS: 53

Epidermolysis Bullosa Simplex

Categories: Rare diseases, Skin diseases, Genetic diseases

Aliases & Classifications for Epidermolysis Bullosa Simplex

MalaCards integrated aliases for Epidermolysis Bullosa Simplex:

Name: Epidermolysis Bullosa Simplex 12 23 49 24 28 51 41 14 69
Epidermolysis Bullosa Intraepidermic 49
Epidermolysis Bullosa, Simplex 36
Ebs 24

Characteristics:

GeneReviews:

23
Penetrance Penetrance is 100% for known heterozygous (autosomal dominant) and biallelic (autosomal recessive) krt5 and krt14 pathogenic variants. penetrance is also 100% for known biallelic pathogenic variants in exph5 and tgm5. disease severity may be influenced by other factors and may show intrafamilial variation [indelman et al 2005]...

Classifications:



External Ids:

Disease Ontology 12 DOID:4644
ICD10 32 Q81.0
MeSH 41 D016110
NCIt 46 C84692
SNOMED-CT 64 205585003 67144006
KEGG 36 H00584
UMLS 69 C0079298

Summaries for Epidermolysis Bullosa Simplex

NIH Rare Diseases : 49 Epidermolysis bullosa simplex (EBS) is one of the major forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. EBS is classified into two groups of subtypes by the layer of skin at which the peeling originates. The basal subtypes cause skin peeling at the lower layers of the epidermis. The most common basal subtypes include EBS localized, Dowling Meara EBS, Generalized other EBS and EBS with muscular dystrophy. More rarely seen basal subtypes include EBS with mottled pigmentation, EBS with pyloic atreseia, EBS Ogna, and EBS circinate migratory.The suprabasal subtypes cause skin peeling at the upper layers of the epidermis and include the rare forms known as Lethal acantolythic EB, Plakophilin deficiency, and EBS superficialis (EBSS). Symptoms of EBS range from mild in the Weber-Cockayne type to severe with blistering that is present at birth or after. Milder phenotypes of EBS have blistering confined to the limbs, whereas in the most severe Dowling Meara type, blisters may also form in the mouth. All of the types are typically caused by mutations in the KRT5 and KRT14 genes. They are usually inherited in an autosomal dominant pattern, but autosomal recessive inheritance has occurred in rare cases. Treatment plans differ depending on severity but typically focus on preventing formation of blisters, caring for blistered skin, and treating infection. Last updated: 7/22/2011

MalaCards based summary : Epidermolysis Bullosa Simplex, also known as epidermolysis bullosa intraepidermic, is related to epidermolysis bullosa simplex, generalized and epidermolysis bullosa simplex, localized, and has symptoms including palmoplantar keratoderma, atypical scarring of skin and abnormality of skin pigmentation. An important gene associated with Epidermolysis Bullosa Simplex is KRT14 (Keratin 14), and among its related pathways/superpathways are Developmental Biology and Cytoskeletal Signaling. The drugs Erythromycin and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and tongue, and related phenotypes are Increased shRNA abundance and integument

Genetics Home Reference : 24 Epidermolysis bullosa simplex is one of a group of genetic conditions called epidermolysis bullosa that cause the skin to be very fragile and to blister easily. Blisters and areas of skin loss (erosions) occur in response to minor injury or friction, such as rubbing or scratching. Epidermolysis bullosa simplex is one of the major forms of epidermolysis bullosa. The signs and symptoms of this condition vary widely among affected individuals. Blistering primarily affects the hands and feet in mild cases, and the blisters usually heal without leaving scars. Severe cases of this condition involve widespread blistering that can lead to infections, dehydration, and other medical problems. Severe cases may be life-threatening in infancy.

Wikipedia : 72 Epidermolysis bullosa simplex (EBS),is a disorder resulting from mutations in the genes encoding keratin... more...

GeneReviews: NBK1369

Related Diseases for Epidermolysis Bullosa Simplex

Diseases in the Epidermolysis Bullosa Simplex family:

Epidermolysis Bullosa Simplex, Localized Epidermolysis Bullosa Simplex, Autosomal Recessive 1
Epidermolysis Bullosa Simplex, Autosomal Recessive 2

Diseases related to Epidermolysis Bullosa Simplex via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 135)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex, generalized 35.0 KRT14 KRT5
2 epidermolysis bullosa simplex, localized 34.9 KRT14 KRT5
3 epidermolysis bullosa simplex, autosomal recessive 1 34.7 KRT14 KRT5
4 epidermolysis bullosa simplex, dowling-meara type 34.5 KRT10 KRT14 KRT5
5 epidermolysis bullosa simplex with mottled pigmentation 34.4 KRT10 KRT14 KRT5
6 epidermolysis bullosa simplex with muscular dystrophy 34.1 COL17A1 DST PLEC
7 epidermolysis bullosa 31.9 COL17A1 DST KRT14 KRT5 PLEC
8 pyloric atresia 30.7 COL17A1 PLEC
9 bullous pemphigoid 30.1 COL17A1 DST PLEC
10 ichthyosis, x-linked 30.0 FLG KRT10
11 junctional epidermolysis bullosa 29.9 COL17A1 DST
12 recessive dystrophic epidermolysis bullosa 29.7 FLG KRT1
13 pachyonychia congenita 1 29.7 FLG KRT10 KRT17
14 congenital ichthyosiform erythroderma 29.2 FLG KRT1 KRT10
15 ichthyosis 29.2 FLG KRT1 KRT10
16 epidermolytic hyperkeratosis 28.7 FLG KRT1 KRT10 KRT17 KRT5
17 epidermolysis bullosa simplex, ogna type 12.8
18 epidermolysis bullosa simplex with migratory circinate erythema 12.8
19 epidermolysis bullosa simplex with pyloric atresia 12.7
20 epidermolysis bullosa simplex, autosomal recessive 2 12.7
21 epidermolysis bullosa simplex, generalized, with scarring and hair loss 12.6
22 epidermolysis bullosa simplex superficialis 12.5
23 epidermolysis bullosa simplex with nail dystrophy 12.5
24 epidermolysis bullosa simplex with anodontia/hypodontia 12.4
25 epidermolysa bullosa simplex with muscular dystrophy 11.8
26 ectodermal dysplasia/skin fragility syndrome 11.7
27 epidermolysis bullosa, lethal acantholytic 11.6
28 epidermolysis bullosa, nonspecific, autosomal recessive 11.6
29 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome 11.5
30 epidermolysis bullosa dystrophica, autosomal dominant 11.2
31 muscular dystrophy 10.7
32 benign breast adenomyoepithelioma 10.4 KRT14 KRT5
33 apocrine sweat gland neoplasm 10.4 KRT14 KRT5
34 breast adenomyoepithelioma 10.4 KRT14 KRT5
35 breast myoepithelial neoplasm 10.4 KRT14 KRT5
36 odontoma 10.4 KRT14 KRT5
37 cervical clear cell adenocarcinoma 10.4 KRT14 KRT5
38 lipoadenoma 10.4 KRT14 KRT5
39 integumentary system benign neoplasm 10.4 KRT14 KRT5
40 lipid-rich carcinoma 10.4 KRT14 KRT5
41 hair follicle neoplasm 10.3 KRT14 KRT17
42 sweat gland cancer 10.3 KRT14 KRT5
43 gastric squamous cell carcinoma 10.3 KRT10 KRT5
44 malignant biphasic mesothelioma 10.2 KRT10 KRT5
45 basaloid squamous cell carcinoma 10.2 KRT14 KRT17
46 alopecia 10.2
47 peeling skin syndrome 10.2
48 hidradenitis suppurativa 10.2 KRT10 KRT14
49 hidradenitis 10.2 KRT10 KRT14
50 steatocystoma multiplex 10.2 KRT10 KRT17

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



Diseases related to Epidermolysis Bullosa Simplex

Symptoms & Phenotypes for Epidermolysis Bullosa Simplex

Human phenotypes related to Epidermolysis Bullosa Simplex:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 31 frequent (33%) HP:0000982
2 atypical scarring of skin 31 occasional (7.5%) HP:0000987
3 abnormality of skin pigmentation 31 frequent (33%) HP:0001000
4 failure to thrive in infancy 31 frequent (33%) HP:0001531
5 dystrophic toenail 31 frequent (33%) HP:0001810
6 pyloric stenosis 31 frequent (33%) HP:0002021
7 neoplasm 31 occasional (7.5%) HP:0002664
8 abnormal blistering of the skin 31 hallmark (90%) HP:0008066
9 aplasia/hypoplasia of the nails 31 frequent (33%) HP:0008386
10 dystrophic fingernails 31 frequent (33%) HP:0008391
11 skin ulcer 31 frequent (33%) HP:0200042

GenomeRNAi Phenotypes related to Epidermolysis Bullosa Simplex according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.8 DST KRT14 KRT17

MGI Mouse Phenotypes related to Epidermolysis Bullosa Simplex:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.02 KRT1 KRT14 KRT17 KRT5 PLEC

Drugs & Therapeutics for Epidermolysis Bullosa Simplex

Drugs for Epidermolysis Bullosa Simplex (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Investigational, Vet_approved Phase 3 114-07-8 12560
2 Anti-Bacterial Agents Phase 3,Phase 2
3 Anti-Infective Agents Phase 3,Phase 2
4 Erythromycin Estolate Phase 3
5 Erythromycin Ethylsuccinate Phase 3
6 Erythromycin stearate Phase 3
7 Gastrointestinal Agents Phase 3
8
Acetylcholine Approved Phase 2 51-84-3 187
9
Everolimus Approved Phase 2 159351-69-6 6442177
10
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
11
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
12 abobotulinumtoxinA Phase 2
13 Anesthetics Phase 2
14 Botulinum Toxins Phase 2
15 Botulinum Toxins, Type A Phase 2
16 Cholinergic Agents Phase 2
17 Neuromuscular Agents Phase 2
18 Neurotransmitter Agents Phase 2
19 onabotulinumtoxinA Phase 2
20 Peripheral Nervous System Agents Phase 2
21 Pharmaceutical Solutions Phase 2
22 Anti-Inflammatory Agents Phase 2
23 Diacetylrhein Phase 2
24 Antibiotics, Antitubercular Phase 2
25 Antifungal Agents Phase 2
26 Immunosuppressive Agents Phase 2
27 Emollients Phase 2
28 Sunscreening Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of Dowling Maera Type of Epidermolysis Bullosa Simplex by Oral Erythromycin Unknown status NCT01340235 Phase 3 Oral erythromycin
2 Diacerin for the Treatment of Epidermolysis Bullosa Simplex Unknown status NCT02470689 Phase 2 Diacerin cream
3 Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita Unknown status NCT00936533 Phase 2 Dysport® (Botulinumtoxin A (Btx A));Placebo
4 Safety and Efficacy of Diacerein 1% Ointment Topical Formulation Compared to Placebo for Subjects With Epidermolysis Bullosa Simplex (EBS) Recruiting NCT03154333 Phase 2 Diacerein 1% Ointment Topical Formulation;Vehicle
5 Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study Recruiting NCT03016715 Phase 2 Sirolimus 2%;Vehicle
6 Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study Active, not recruiting NCT02960997 Phase 2 Sirolimus, 2%;Vehicle
7 Long Term Open-label Study Evaluating Safety of Diacerein 1% Ointment Topical Formulation in Subjects With Epidermolysis Bullosa Simplex Enrolling by invitation NCT03389308 Phase 2 Diacerein 1% Ointment
8 Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal Skin Completed NCT02592954 Phase 1 Jojoba oil with broccoli sprout extract;Jojoba oil (placebo)
9 Study of Inflammatory Mechanisms in Epidermolysis Bullosa Simplex- Dowling Meara Completed NCT01556308
10 Computational Drug Repurposing for EBS Enrolling by invitation NCT03269474

Search NIH Clinical Center for Epidermolysis Bullosa Simplex

Cochrane evidence based reviews: epidermolysis bullosa simplex

Genetic Tests for Epidermolysis Bullosa Simplex

Genetic tests related to Epidermolysis Bullosa Simplex:

# Genetic test Affiliating Genes
1 Epidermolysis Bullosa Simplex 28

Anatomical Context for Epidermolysis Bullosa Simplex

MalaCards organs/tissues related to Epidermolysis Bullosa Simplex:

38
Skin, Testes, Tongue

Publications for Epidermolysis Bullosa Simplex

Articles related to Epidermolysis Bullosa Simplex:

(show top 50) (show all 362)
# Title Authors Year
1
A novel PLEC nonsense homozygous mutation (c.7159Ga88>a88T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report. ( 29352809 )
2018
2
Diacerein Orphan Drug Development for Epidermolysis Bullosa Simplex: A Phase 2/3 Randomized, Placebo-Controlled, Double-Blind Clinical Trial. ( 29410318 )
2018
3
Monoallelic Large Intragenic KRT5 Deletions Account for Genetically Unsolved Cases of Epidermolysis Bullosa Simplex. ( 28576738 )
2017
4
Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex. ( 28659151 )
2017
5
Threonine 150 Phosphorylation of Keratin 5 Is Linked to Epidermolysis Bullosa Simplex and Regulates Filament Assembly and Cell Viability. ( 29080682 )
2017
6
Autosomal recessive epidermolysis bullosa simplex: report of three cases from India. ( 28925504 )
2017
7
Loss of interaction between plectin and type XVII collagen results in epidermolysis bullosa simplex. ( 28941359 )
2017
8
Autosomal recessive epidermolysis bullosa simplex due to KRT14 mutation: two large Palestinian families and literature review. ( 29024068 )
2017
9
Traceless Targeting and Isolation of Gene-Edited Immortalized Keratinocytes from Epidermolysis Bullosa Simplex Patients. ( 28765827 )
2017
10
"Nails Only" Phenotype and Partial Dominance of p.Glu170Lys Mutation in a Family with Epidermolysis Bullosa Simplex. ( 28425111 )
2017
11
[Study of a family with epidermolysis bullosa simplex resulting from a novel mutation of KRT14 gene]. ( 28777847 )
2017
12
A novel deletion mutation in the 2B domain of KRT5 in epidermolysis bullosa simplex with childhood-onset migratory circinate erythema. ( 29180315 )
2017
13
Homozygous Nonsense Mutation and Additional Deletion of an Amino Acid in BPAG1e Causing Mild Localized Epidermolysis Bullosa Simplex. ( 28119998 )
2017
14
Epidermolysis bullosa simplex complicated by allergic contact dermatitis caused by a hydrocolloid dressing. ( 28220564 )
2017
15
Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules. ( 28558912 )
2017
16
A Review of 52 Pedigrees with Epidermolysis Bullosa Simplex Identifying Ten Novel Mutations in KRT5 and KRT14 in Australia. ( 28561874 )
2017
17
Vulvar Exacerbation of Epidermolysis Bullosa Simplex: A Case Report. ( 27030882 )
2016
18
KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family. ( 27283507 )
2016
19
Epidermolysis bullosa simplex in sibling Eurasier dogs is caused by a PLEC non-sense variant. ( 27878870 )
2016
20
Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy. ( 27121971 )
2016
21
Kaposi varicelliform eruption in a patient with epidermolysis bullosa simplex generalized severe. ( 27284571 )
2016
22
A novel KRT5 mutation associated with generalized severe epidermolysis bullosa simplex in a 2-year-old Chinese boy. ( 27882080 )
2016
23
Digenic Inheritance in Epidermolysis Bullosa Simplex involving two novel mutations in KRT5 and KRT14. ( 27611893 )
2016
24
The first familial cases of epidermolysis bullosa simplex, generalized severe with p.Asn176Ser in KRT5 revealing the clinical chronology. ( 27868258 )
2016
25
Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report. ( 28400893 )
2016
26
A Sporadic Neonatal Case of Epidermolysis Bullosa Simplex Generalized Intermediate with KRT5 and KRT14 Gene Mutations. ( 26929861 )
2016
27
Treatment of symptomatic epidermolysis bullosa simplex with botulinum toxin in a pediatric patient. ( 27486588 )
2016
28
Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5. ( 27730678 )
2016
29
Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation. ( 27766310 )
2016
30
In-frame Exon Skipping in KRT5 due to Novel Intronic Deletion Causes Epidermolysis Bullosa Simplex, Generalized Severe. ( 27136972 )
2016
31
Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations. ( 27384765 )
2016
32
Oral erythromycin therapy in epidermolysis bullosa simplex generalized severe. ( 25601422 )
2015
33
A fixed denture for a child with epidermolysis bullosa simplex. ( 26637257 )
2015
34
Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation. ( 25454730 )
2015
35
Oral Manifestations and Dental Management of Epidermolysis Bullosa Simplex. ( 26604545 )
2015
36
Whole-transcriptome gene expression profiling in an epidermolysis bullosa simplex Dowling-Meara model keratinocyte cell line uncovered novel, potential therapeutic targets and affected pathways. ( 26666517 )
2015
37
A Drosophila model of Epidermolysis Bullosa Simplex. ( 25830653 )
2015
38
Reduction in keratin aggregates in epidermolysis bullosa simplex keratinocytes after pretreatment with trimethylamine N-oxide. ( 26264477 )
2015
39
Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation. ( 26432462 )
2015
40
Apocytolysis, a proposed mechanism of blister formation in epidermolysis bullosa simplex. ( 25822146 )
2015
41
Distinct Impact of Two Keratin Mutations Causing Epidermolysis Bullosa Simplex on Keratinocyte Adhesion and Stiffness. ( 25961909 )
2015
42
Mutations in EXPH5 (exophilin-5) underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex. ( 26211931 )
2015
43
Novel keratin 5 mutation in a family with epidermolysis bullosa simplex. ( 26668653 )
2015
44
Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex. ( 25712130 )
2015
45
Epidermolysis bullosa simplex with mottled pigmentation with noncicatricial alopecia: Identification of a recurrent p.P25L mutation in KRT5 in four affected family members. ( 26286811 )
2015
46
Epidermolysis bullosa simplex: greater penetrance due to a keratin 5 gene variant. ( 23746086 )
2014
47
Weber-Cockayne Type Epidermolysis Bullosa Simplex Resulting from a Novel Mutation (c. 608T>C) in the Keratin 5 Gene. ( 25473227 )
2014
48
Renal involvement in epidermolysis bullosa simplex: an unusual presentation. ( 23229918 )
2014
49
Novel Ala94Thr mutation of keratin 14 in epidermolysis bullosa simplex. ( 25040198 )
2014
50
In silico analysis of all point mutations on the 2B domain of K5/K14 causing epidermolysis bullosa simplex: a genotype-phenotype correlation. ( 25017986 )
2014

Variations for Epidermolysis Bullosa Simplex

Expression for Epidermolysis Bullosa Simplex

Search GEO for disease gene expression data for Epidermolysis Bullosa Simplex.

Pathways for Epidermolysis Bullosa Simplex

Pathways related to Epidermolysis Bullosa Simplex according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.01 FLG KRT1 KRT10 KRT14 KRT17 KRT5
2 11.95 KRT10 KRT17 KRT5 PLEC
3
Show member pathways
11.89 FLG KRT1 KRT10 KRT14 KRT17 KRT5
4 11.35 KRT14 KRT17 KRT5
5
Show member pathways
11.13 DST KRT1 KRT14 KRT17 KRT5 PLEC

GO Terms for Epidermolysis Bullosa Simplex

Cellular components related to Epidermolysis Bullosa Simplex according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.97 DST FLG KRT1 KRT10 KRT14 KRT17
2 extracellular exosome GO:0070062 9.87 DST KRT1 KRT10 KRT14 KRT17 KRT5
3 cell periphery GO:0071944 9.43 KRT14 KRT17
4 keratin filament GO:0045095 9.43 KRT1 KRT14 KRT5
5 intermediate filament cytoskeleton GO:0045111 9.4 KRT17 PLEC
6 cornified envelope GO:0001533 9.33 FLG KRT1 KRT10
7 intermediate filament GO:0005882 9.17 DST FLG KRT1 KRT10 KRT14 KRT17
8 hemidesmosome GO:0030056 9.13 COL17A1 DST PLEC

Biological processes related to Epidermolysis Bullosa Simplex according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 epidermis development GO:0008544 9.56 COL17A1 KRT14 KRT17 KRT5
2 keratinization GO:0031424 9.55 KRT1 KRT10 KRT14 KRT17 KRT5
3 peptide cross-linking GO:0018149 9.5 FLG KRT1 KRT10
4 establishment of skin barrier GO:0061436 9.37 FLG KRT1
5 hemidesmosome assembly GO:0031581 9.26 COL17A1 KRT14 KRT5 PLEC
6 cornification GO:0070268 9.1 FLG KRT1 KRT10 KRT14 KRT17 KRT5

Molecular functions related to Epidermolysis Bullosa Simplex according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.33 KRT14 KRT17 KRT5
2 cytoskeletal protein binding GO:0008092 9.26 DST PLEC
3 structural molecule activity GO:0005198 9.26 FLG KRT1 KRT10 KRT17
4 structural constituent of epidermis GO:0030280 8.8 FLG KRT1 KRT10

Sources for Epidermolysis Bullosa Simplex

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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41 MeSH
42 MESH via Orphanet
43 MGI
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50 NINDS
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53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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