K-EBS
MCID: EPD029
MIFTS: 46

Epidermolysis Bullosa Simplex, Generalized (K-EBS)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Simplex, Generalized

MalaCards integrated aliases for Epidermolysis Bullosa Simplex, Generalized:

Name: Epidermolysis Bullosa Simplex, Generalized 58 54
Epidermolysis Bullosa Simplex, Koebner Type 58 54 60 76 30 13 6 41
Ebs, Generalized 58 54
Generalized Epidermolysis Bullosa Simplex, Non-Dowling-Meara Type 60
Epidermolysis Bullosa Simplex, Generalized Non-Dowling-Meara 54
Epidermolysis Bullosa Simplex, Generalized Intermediate 60
Epidermolysis Bullosa Simplex Generalized Type 12
Epidermolysis Bullosa Simplex Koebner Type 12
Epidermolysis Bullosa Simplex, Köbner Type 60
Generalized Ebs, Non-Dowling-Meara Type 60
Epidermolysis Bullosa Simplex Kobner 74
Epidermolysis Bullosa Simplex 2 76
Ebs, Generalized Intermediate 60
Generalized Ebs 54
Ebs Generalized 76
Ebs-K 54
K-Ebs 76
Ebs2 76

Characteristics:

Orphanet epidemiological data:

60
epidermolysis bullosa simplex, generalized intermediate
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth or in early infancy
disease exacerbation during summer due to heat
improvement with age
blistering becomes confined to the palms and soles with age


HPO:

33
epidermolysis bullosa simplex, generalized:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0080511
OMIM 58 131900
MeSH 45 D016110
MESH via Orphanet 46 C535961
ICD10 via Orphanet 35 Q81.0
UMLS via Orphanet 75 C0079299
Orphanet 60 ORPHA79399
MedGen 43 C0079299
UMLS 74 C0079299

Summaries for Epidermolysis Bullosa Simplex, Generalized

OMIM : 58 Epidermolysis bullosa simplex (EBS) is a clinically and genetically heterogeneous skin disorder characterized by recurrent blistering of the skin following minor physical trauma as a result of cytolysis within basal epidermal cells. Most forms show autosomal dominant inheritance. The 3 main types include the generalized Koebner form, the more severe generalized Dowling-Meara form (131760), and the localized, mild Weber-Cockayne form (131800) (Fine et al., 2008). All 3 forms can be caused by mutation in the KRT5 or the KRT14 gene. See 601001 for a rare autosomal recessive form caused by mutation in the KRT14 gene. Davison (1965) referred to generalized distribution of bullous vesicles as epidermolysis simplex bullosa. The condition in which bullae were limited to the hands and feet was referred to as the Cockayne type of epidermolysis bullosa (131800). On the basis of an extensive study in Norway and review of the literature, Gedde-Dahl (1971) arrived at a classification of epidermolysis bullosa. EB simplex in this classification encompassed disorders characterized by bulla formation within the epidermis, basal cell vacuolization, and dissolution of tonofibrils on electron microscopy. The generalized Koebner form and the localized Weber-Cockayne type were believed to be allelic. Gedde-Dahl (1981) recognized at least 16 varieties of epidermolysis bullosa and suggested that dominant EB simplex can be clinically and genetically divided into at least 4 types: the generalized Koebner type, the localized Weber-Cockayne type, the mild Ogna type with fragile skin (131950), and a form with mottled pigmentation (131960). Fine et al. (1991) provided a revised classification of the subtypes of inherited epidermolysis bullosa based on clinical and laboratory criteria. (131900)

MalaCards based summary : Epidermolysis Bullosa Simplex, Generalized, also known as epidermolysis bullosa simplex, koebner type, is related to epidermolysis bullosa simplex, dowling-meara type and epidermolysis bullosa simplex, localized. An important gene associated with Epidermolysis Bullosa Simplex, Generalized is KRT5 (Keratin 5), and among its related pathways/superpathways are Keratinization and Cytoskeleton remodeling Neurofilaments. The drugs Sirolimus and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and breast, and related phenotypes are abnormal blistering of the skin and subcutaneous hemorrhage

Disease Ontology : 12 An epidermolysis bullosa simplex that is characterized by widespread blisters that appear at birth or in early infancy.

NIH Rare Diseases : 54 Epidermolysis bullosa simplex (EBS), generalized is a form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and blister easily. This disorder usually presents at birth or during infancy and results in widespread blisters over the body's surface. Though it is not a common feature of this type, scarring may occur. There may also be mild involvement of mucous membranes, fingernails and toenails, and localized thickening of the skin on the soles of the feet and the palms of the hands that increases with age. There are two major subtypes of this condition and 17 minor subtypes. The four most common types of epidermolysis bullosa simplex are EBS localized, EBS generalized intermediate, EBS with mottled pigmentation and EBS generalized severe. These four common types are caused by mutations in the EXPH5, KRT5, KRT14, and TGM5 genes. This condition is usually inherited in an autosomal dominant or autosomal recessive fashion.. These conditions are diagnosed based on the symptoms and by genetic testing.  Treatment is focused on managing the symptoms. The symptoms of EBS tend to get better with age. The long-term outlook for people with EBS depends on how well the skin symptoms can be managed. 

UniProtKB/Swiss-Prot : 76 Epidermolysis bullosa simplex, Koebner type: A form of intraepidermal epidermolysis bullosa characterized by generalized skin blistering. The phenotype is not fundamentally distinct from the Dowling-Meara type, although it is less severe.

Related Diseases for Epidermolysis Bullosa Simplex, Generalized

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

(show all 42)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex, dowling-meara type 32.4 KRT14 KRT5
2 epidermolysis bullosa simplex, localized 31.4 KRT14 KRT5
3 epidermolysis bullosa 30.3 KLHL24 KRT14 KRT5
4 epidermolysis bullosa simplex 30.3 KLHL24 KRT14 KRT5
5 epidermolysis bullosa simplex, generalized, with scarring and hair loss 12.8
6 epidermolysis bullosa simplex, ogna type 11.3
7 helix syndrome 10.1
8 epidermolysis bullosa dystrophica 10.1
9 neuromuscular disease 10.1
10 skin disease 9.9 KRT14 KRT5
11 benign breast adenomyoepithelioma 9.9 KRT14 KRT5
12 breast adenomyoepithelioma 9.9 KRT14 KRT5
13 lichen planopilaris 9.9 KRT14 KRT5
14 epidermolysis bullosa simplex, autosomal recessive 1 9.9 KRT14 KRT5
15 large cell acanthoma 9.9 KRT14 KRT5
16 apocrine sweat gland neoplasm 9.9 KRT14 KRT5
17 breast squamous cell carcinoma 9.9 KRT14 KRT5
18 epidermolysis bullosa simplex with mottled pigmentation 9.9 KRT14 KRT5
19 cervical clear cell adenocarcinoma 9.9 KRT14 KRT5
20 odontoma 9.9 KRT14 KRT5
21 breast myoepithelial neoplasm 9.9 KRT14 KRT5
22 breast benign neoplasm 9.9 KRT14 KRT5
23 thoracic benign neoplasm 9.9 KRT14 KRT5
24 lipoadenoma 9.9 KRT14 KRT5
25 lipid-rich carcinoma 9.9 KRT14 KRT5
26 pregnancy adenoma 9.9 KRT14 KRT5
27 sweat gland disease 9.8 KRT14 KRT5
28 intraneural perineurioma 9.8 KRT14 KRT5
29 tonsil cancer 9.8 KRT14 KRT5
30 pre-malignant neoplasm 9.8 KRT14 KRT5
31 oropharynx cancer 9.8 KRT14 KRT5
32 in situ carcinoma 9.8 KRT14 KRT5
33 spindle cell carcinoma 9.8 KRT14 KRT5
34 primary cutaneous amyloidosis 9.8 KRT14 KRT5
35 skin benign neoplasm 9.8 KRT14 KRT5
36 dowling-degos disease 9.8 KRT14 KRT5
37 sweat gland cancer 9.7 KRT14 KRT5
38 ductal carcinoma in situ 9.7 KRT14 KRT5
39 papilloma 9.7 KRT14 KRT5
40 adenoid cystic carcinoma 9.6 KRT14 KRT5
41 vesiculobullous skin disease 9.6 KLHL24 KRT14 KRT5
42 cervical cancer 9.5 KRT14 KRT5

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



Diseases related to Epidermolysis Bullosa Simplex, Generalized

Symptoms & Phenotypes for Epidermolysis Bullosa Simplex, Generalized

Human phenotypes related to Epidermolysis Bullosa Simplex, Generalized:

60 33 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal blistering of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0008066
2 subcutaneous hemorrhage 60 33 hallmark (90%) Very frequent (99-80%) HP:0001933
3 oral leukoplakia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002745
4 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
5 hyperhidrosis 60 33 frequent (33%) Frequent (79-30%) HP:0000975
6 abnormality of the nail 60 33 frequent (33%) Frequent (79-30%) HP:0001597
7 generalized hyperkeratosis 60 33 frequent (33%) Frequent (79-30%) HP:0005595
8 palmoplantar keratoderma 60 33 frequent (33%) Frequent (79-30%) HP:0000982
9 ophthalmoparesis 60 33 frequent (33%) Frequent (79-30%) HP:0000597
10 abnormality of dental enamel 60 33 frequent (33%) Frequent (79-30%) HP:0000682
11 abnormal pattern of respiration 60 33 frequent (33%) Frequent (79-30%) HP:0002793
12 milia 60 33 occasional (7.5%) Frequent (79-30%) HP:0001056
13 failure to thrive 60 33 occasional (7.5%) Occasional (29-5%) HP:0001508
14 respiratory insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0002093
15 fatigable weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0003473
16 nail dystrophy 33 occasional (7.5%) HP:0008404
17 nail dysplasia 33 occasional (7.5%) HP:0002164
18 muscle weakness 60 Very frequent (99-80%)
19 palmoplantar hyperkeratosis 33 HP:0000972
20 oral mucosal blisters 33 HP:0200097

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Mouth:
oral blistering

Skin Nails Hair Skin Electron Microscopy:
cleavage within basal keratinocytes
no clumping of keratin filaments in basal epidermal cells

Skin Nails Hair Skin:
hyperkeratosis of the palms and soles
blistering, generalized, recurrent (occurs after mild physical trauma)
milia (less common)
lack of scarring

Skin Nails Hair Nails:
dystrophic nails (less common)

Clinical features from OMIM:

131900

Drugs & Therapeutics for Epidermolysis Bullosa Simplex, Generalized

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 5284616 6436030
2
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
3
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
4 Immunologic Factors Phase 2
5 Antibiotics, Antitubercular Phase 2
6 Anti-Infective Agents Phase 2
7 Immunosuppressive Agents Phase 2
8 Antifungal Agents Phase 2
9 Anti-Bacterial Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study Recruiting NCT03016715 Phase 2 Sirolimus 2%;Vehicle
2 Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study Active, not recruiting NCT02960997 Phase 2 Sirolimus, 2%;Vehicle

Search NIH Clinical Center for Epidermolysis Bullosa Simplex, Generalized

Genetic Tests for Epidermolysis Bullosa Simplex, Generalized

Genetic tests related to Epidermolysis Bullosa Simplex, Generalized:

# Genetic test Affiliating Genes
1 Epidermolysis Bullosa Simplex, Koebner Type 30 KRT14 KRT5

Anatomical Context for Epidermolysis Bullosa Simplex, Generalized

MalaCards organs/tissues related to Epidermolysis Bullosa Simplex, Generalized:

42
Skin, Testes, Breast, Tonsil

Publications for Epidermolysis Bullosa Simplex, Generalized

Articles related to Epidermolysis Bullosa Simplex, Generalized:

(show all 18)
# Title Authors Year
1
Epidermolysis bullosa simplex generalized severe induces a T helper 17 response and is improved by apremilast treatment. ( 29932457 )
2019
2
Epidermolysis bullosa simplex-generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype-phenotype correlation and in silico modeling analysis. ( 30515866 )
2019
3
In-frame Exon Skipping in KRT5 due to Novel Intronic Deletion Causes Epidermolysis Bullosa Simplex, Generalized Severe. ( 27136972 )
2017
4
The first familial cases of epidermolysis bullosa simplex, generalized severe with p.Asn176Ser in KRT5 revealing the clinical chronology. ( 27868258 )
2017
5
Kaposi varicelliform eruption in a patient with epidermolysis bullosa simplex generalized severe. ( 27284571 )
2016
6
A Sporadic Neonatal Case of Epidermolysis Bullosa Simplex Generalized Intermediate with KRT5 and KRT14 Gene Mutations. ( 26929861 )
2016
7
Oral erythromycin therapy in epidermolysis bullosa simplex generalized severe. ( 25601422 )
2015
8
Exome sequencing reveals a novel mutation, p.L325H, in the KRT5 gene associated with autosomal dominant Epidermolysis Bullosa Simplex Koebner type in a large family from western India. ( 27081501 )
2014
9
Missense mutation at the helix termination region in the 2B domain of keratin 14 in a Japanese family with epidermolysis bullosa simplex, generalized, other. ( 21413954 )
2011
10
A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes. ( 11407988 )
2001
11
A novel mutation in the L12 domain of keratin 5 in the Köbner variant of epidermolysis bullosa simplex. ( 9740251 )
1998
12
Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function. ( 7534039 )
1995
13
A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex. ( 7682883 )
1993
14
Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex. ( 7686424 )
1993
15
Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. ( 1720261 )
1991
16
Mapping of epidermolysis bullosa simplex mutation to chromosome 12. ( 1718160 )
1991
17
Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease. ( 1703046 )
1991
18
Autosomal recessive epidermolysis bullosa simplex. Generalized phenotypic features suggestive of junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases. ( 2662909 )
1989

Variations for Epidermolysis Bullosa Simplex, Generalized

UniProtKB/Swiss-Prot genetic disease variations for Epidermolysis Bullosa Simplex, Generalized:

76 (show all 20)
# Symbol AA change Variation ID SNP ID
1 KRT14 p.Met272Arg VAR_003841 rs61371557
2 KRT14 p.Leu384Pro VAR_003843 rs59629244
3 KRT14 p.Tyr415His VAR_003844 rs58380626
4 KRT14 p.Leu122Phe VAR_010442 rs59110575
5 KRT14 p.Leu143Pro VAR_010446 rs61326242
6 KRT14 p.Ala247Asp VAR_010447 rs147611635
7 KRT14 p.Met119Val VAR_023719 rs61263401
8 KRT14 p.Val133Leu VAR_023723 rs61027685
9 KRT14 p.Ala413Thr VAR_023725 rs59780231
10 KRT14 p.Met272Thr VAR_027719 rs61371557
11 KRT14 p.Arg134Pro VAR_031635 rs61540016
12 KRT5 p.Leu463Pro VAR_003876 rs57599352
13 KRT5 p.Lys173Asn VAR_010455 rs58163069
14 KRT5 p.Val323Ala VAR_010460 rs59840738
15 KRT5 p.Leu325Pro VAR_010461 rs58107458
16 KRT5 p.Val186Leu VAR_013829 rs121912475
17 KRT5 p.Val143Asp VAR_031640 rs59851104
18 KRT5 p.Val186Met VAR_031642 rs121912475
19 KRT5 p.Gln191Pro VAR_031643 rs57751134
20 KRT5 p.Gly517Asp VAR_031645 rs58608695

ClinVar genetic disease variations for Epidermolysis Bullosa Simplex, Generalized:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT14 NM_000526.4(KRT14): c.1151T> C (p.Leu384Pro) single nucleotide variant Pathogenic rs59629244 GRCh37 Chromosome 17, 39739610: 39739610
2 KRT14 NM_000526.4(KRT14): c.1151T> C (p.Leu384Pro) single nucleotide variant Pathogenic rs59629244 GRCh38 Chromosome 17, 41583358: 41583358
3 KRT14 NM_000526.4(KRT14): c.815T> G (p.Met272Arg) single nucleotide variant Pathogenic rs61371557 GRCh37 Chromosome 17, 39740124: 39740124
4 KRT14 NM_000526.4(KRT14): c.815T> G (p.Met272Arg) single nucleotide variant Pathogenic rs61371557 GRCh38 Chromosome 17, 41583872: 41583872
5 KRT5 NM_000424.3(KRT5): c.1388T> C (p.Leu463Pro) single nucleotide variant Pathogenic rs57599352 GRCh37 Chromosome 12, 52910472: 52910472
6 KRT5 NM_000424.3(KRT5): c.1388T> C (p.Leu463Pro) single nucleotide variant Pathogenic rs57599352 GRCh38 Chromosome 12, 52516688: 52516688
7 KRT5 NM_000424.3(KRT5): c.980T> C (p.Met327Thr) single nucleotide variant Pathogenic rs58072617 GRCh37 Chromosome 12, 52911486: 52911486
8 KRT5 NM_000424.3(KRT5): c.980T> C (p.Met327Thr) single nucleotide variant Pathogenic rs58072617 GRCh38 Chromosome 12, 52517702: 52517702
9 KRT5 NM_000424.3(KRT5): c.519G> C (p.Lys173Asn) single nucleotide variant Pathogenic rs58163069 GRCh37 Chromosome 12, 52913562: 52913562
10 KRT5 NM_000424.3(KRT5): c.519G> C (p.Lys173Asn) single nucleotide variant Pathogenic rs58163069 GRCh38 Chromosome 12, 52519778: 52519778
11 KRT5 NM_000424.3(KRT5): c.20T> C (p.Val7Ala) single nucleotide variant Pathogenic rs121912474 GRCh37 Chromosome 12, 52914061: 52914061
12 KRT5 NM_000424.3(KRT5): c.20T> C (p.Val7Ala) single nucleotide variant Pathogenic rs121912474 GRCh38 Chromosome 12, 52520277: 52520277
13 KRT5 NM_000424.3(KRT5): c.556G> T (p.Val186Leu) single nucleotide variant Pathogenic rs121912475 GRCh37 Chromosome 12, 52912944: 52912944
14 KRT5 NM_000424.3(KRT5): c.556G> T (p.Val186Leu) single nucleotide variant Pathogenic rs121912475 GRCh38 Chromosome 12, 52519160: 52519160
15 KLHL24 NM_017644.3(KLHL24): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs886037957 GRCh37 Chromosome 3, 183368147: 183368147
16 KLHL24 NM_017644.3(KLHL24): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs886037957 GRCh38 Chromosome 3, 183650359: 183650359
17 KLHL24 NM_017644.3(KLHL24): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs886037957 GRCh37 Chromosome 3, 183368147: 183368147
18 KLHL24 NM_017644.3(KLHL24): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs886037957 GRCh38 Chromosome 3, 183650359: 183650359
19 KLHL24 NM_017644.3(KLHL24): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs886037956 GRCh37 Chromosome 3, 183368145: 183368145
20 KLHL24 NM_017644.3(KLHL24): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs886037956 GRCh38 Chromosome 3, 183650357: 183650357
21 KLHL24 NM_017644.3(KLHL24): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs1057515580 GRCh37 Chromosome 3, 183368146: 183368146
22 KLHL24 NM_017644.3(KLHL24): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs1057515580 GRCh38 Chromosome 3, 183650358: 183650358
23 KRT5 NM_000424.3(KRT5): c.1394T> G (p.Val465Gly) single nucleotide variant Likely pathogenic rs1555156076 GRCh38 Chromosome 12, 52516682: 52516682
24 KRT5 NM_000424.3(KRT5): c.1394T> G (p.Val465Gly) single nucleotide variant Likely pathogenic rs1555156076 GRCh37 Chromosome 12, 52910466: 52910466

Expression for Epidermolysis Bullosa Simplex, Generalized

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

Pathways for Epidermolysis Bullosa Simplex, Generalized

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.61 KRT14 KRT5
2
Show member pathways
10.99 KRT14 KRT5
3 10.54 KRT14 KRT5

GO Terms for Epidermolysis Bullosa Simplex, Generalized

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

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 8.96 KRT14 KRT5
2 keratin filament GO:0045095 8.62 KRT14 KRT5

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

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.26 KRT14 KRT5
2 cornification GO:0070268 9.16 KRT14 KRT5
3 epidermis development GO:0008544 8.96 KRT14 KRT5
4 hemidesmosome assembly GO:0031581 8.62 KRT14 KRT5

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 8.62 KRT14 KRT5

Sources for Epidermolysis Bullosa Simplex, Generalized

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