EHK
MCID: EPD002
MIFTS: 50

Epidermolytic Hyperkeratosis (EHK) malady

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Epidermolytic Hyperkeratosis

Aliases & Descriptions for Epidermolytic Hyperkeratosis:

Name: Epidermolytic Hyperkeratosis 54 12 25 66 13 14
Bullous Congenital Ichthyosiform Erythroderma 12 25 66 52
Bullous Ichthyosiform Erythroderma 12 25 66
Hyperkeratosis, Epidermolytic 25 42 69
Bullous Erythroderma Ichthyosiformis Congenita of Brocq 25 66
Bullous Erythroderma Ichthyosiforme 25 29
Bcie 25 66
Ehk 25 66
Bie 25 66
Epidermolytic Palmoplantar Hyperkeratosis 12
Epidermolytic Hyperkeratosis Late-Onset 66
Epidermolytic Ichthyosis 25

Characteristics:

HPO:

32
epidermolytic hyperkeratosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 113800
Disease Ontology 12 DOID:4603
ICD10 33 Q80.3
MeSH 42 D017488
NCIt 47 C62569
UMLS 69 C0079153

Summaries for Epidermolytic Hyperkeratosis

OMIM : 54 Epidermolytic hyperkeratosis (EHK), also termed bullous congenital ichthyosiform erythroderma (BCIE), is a... (113800) more...

MalaCards based summary : Epidermolytic Hyperkeratosis, also known as bullous congenital ichthyosiform erythroderma, is related to squamous cell carcinoma and ichthyosis, cyclic, with epidermolytic hyperkeratosis, and has symptoms including abnormal blistering of the skin, erythroderma and palmoplantar hyperkeratosis. An important gene associated with Epidermolytic Hyperkeratosis is KRT10 (Keratin 10), and among its related pathways/superpathways are Developmental Biology and Cytoskeletal Signaling. The drugs Antibodies and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include skin.

Genetics Home Reference : 25 Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Affected babies may have very red skin (erythroderma) and severe blisters. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis).

UniProtKB/Swiss-Prot : 66 Epidermolytic hyperkeratosis: An autosomal dominant skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop.

Wikipedia : 71 Epidermolytic hyperkeratosis, (also known as Bullous congenital ichthyosiform erythroderma,Bullous... more...

Related Diseases for Epidermolytic Hyperkeratosis

Diseases in the Epidermolytic Hyperkeratosis family:

Krt1-Related Epidermolytic Hyperkeratosis Krt10-Related Epidermolytic Hyperkeratosis

Diseases related to Epidermolytic Hyperkeratosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 101)
id Related Disease Score Top Affiliating Genes
1 squamous cell carcinoma 30.0 KRT1 KRT10 KRT9
2 ichthyosis, cyclic, with epidermolytic hyperkeratosis 12.1
3 krt1-related epidermolytic hyperkeratosis 12.0
4 krt10-related epidermolytic hyperkeratosis 12.0
5 ichthyosis, congenital, autosomal recessive 2 11.9
6 palmoplantar keratoderma, epidermolytic 11.7
7 epidermolytic ichthyosis 11.4
8 ichthyosis bullosa of siemens 11.3
9 ichthyosis hystrix gravior 10.9
10 epidermal nevus, somatic 10.9
11 palmoplantar keratoderma, bothnian type 10.9
12 wilson disease 10.8
13 menkes disease 10.8
14 ichthyosis 10.4
15 bradyopsia 10.3 KRT1 KRT10
16 palmoplantar keratoderma, nonepidermolytic 10.3 KRT1 KRT10
17 subglottis verrucous carcinoma 10.2 KRT1 KRT10
18 insulinoma 10.2 FLG KRT10
19 pneumonia caused by pseudomonas aeruginosa infection 10.2 FLG KRT1
20 dowling-degos disease 1 10.2 KRT10 KRT5
21 nevus comedonicus 10.2
22 neonatal marfan syndrome 10.2 KRT2 KRT5
23 basaloid squamous cell carcinoma 10.2 KRT10 KRT5
24 chondrodysplasia punctata, x-linked recessive 10.2 FLG KRT10
25 anal squamous cell carcinoma 10.2 KRT10 KRT5
26 persian gulf syndrome 10.2 KRT10 KRT5
27 preauricular tag, isolated, autosomal dominant, 1 10.2 FLG KRT10
28 gaucher disease, type i 10.2 FLG LOR
29 congenital ichthyosiform erythroderma 10.2
30 thymus mucoepidermoid carcinoma 10.1 FLG KRT1 KRT10
31 cole-carpenter syndrome 1 10.1 FLG KRT1 KRT10
32 ovarian insufficiency due to fsh resistance 10.1 KRT1 KRT5
33 erdheim-chester disease 10.1 KRT1 KRT10 KRT9
34 bronchiolitis obliterans with obstructive pulmonary disease 10.1 KRT10 KRT16
35 ciliary dyskinesia, primary, 1, with or without situs inversus 10.1 KRT1 KRT10 KRT9
36 mongolian spot 10.1 KRT10 KRT5
37 epidermolysis bullosa 10.1
38 secondary corneal edema 10.1 KRT10 KRT16
39 cerebellar disease 10.1 FLG KRT16
40 progressive myoclonus epilepsy 10.1 FLG LOR
41 anal margin basal cell carcinoma 10.1 KRT10 KRT17
42 dermatitis, atopic 2 10.0 FLG KRT1 LOR
43 nodular cutaneous amyloidosis 10.0 KRT10 KRT5
44 episodic angioedema with eosinophilia 10.0 FLG KRT1 KRT10 KRT2
45 skin atrophy 10.0 KRT1 KRT10 KRT16
46 familial acute necrotizing encephalopathy 10.0 FLG KRT10 KRT16
47 keratosis 10.0
48 basal cell carcinoma 10.0
49 epidermolysis bullosa simplex 10.0
50 vascular dementia 10.0 FLG KRT10 KRT16

Graphical network of the top 20 diseases related to Epidermolytic Hyperkeratosis:



Diseases related to Epidermolytic Hyperkeratosis

Symptoms & Phenotypes for Epidermolytic Hyperkeratosis

Symptoms by clinical synopsis from OMIM:

113800

Clinical features from OMIM:

113800

Human phenotypes related to Epidermolytic Hyperkeratosis:

32
id Description HPO Frequency HPO Source Accession
1 abnormal blistering of the skin 32 HP:0008066
2 erythroderma 32 HP:0001019
3 palmoplantar hyperkeratosis 32 HP:0000972
4 scaling skin 32 HP:0040189

UMLS symptoms related to Epidermolytic Hyperkeratosis:


scaly skin

Drugs & Therapeutics for Epidermolytic Hyperkeratosis

Drugs for Epidermolytic Hyperkeratosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 2
2 Antibodies, Monoclonal Phase 2
3 Immunoglobulins Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 The Efficacy and Safety of Secukinumab in Patients With Ichthyoses Recruiting NCT03041038 Phase 2
2 National Registry for Ichthyosis and Related Disorders Unknown status NCT00074685

Search NIH Clinical Center for Epidermolytic Hyperkeratosis

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: hyperkeratosis, epidermolytic

Genetic Tests for Epidermolytic Hyperkeratosis

Genetic tests related to Epidermolytic Hyperkeratosis:

id Genetic test Affiliating Genes
1 Bullous Ichthyosiform Erythroderma 29

Anatomical Context for Epidermolytic Hyperkeratosis

MalaCards organs/tissues related to Epidermolytic Hyperkeratosis:

39
Skin

Publications for Epidermolytic Hyperkeratosis

Articles related to Epidermolytic Hyperkeratosis:

(show top 50) (show all 148)
id Title Authors Year
1
Incidental focal epidermolytic hyperkeratosis in rosacea. ( 27401945 )
2016
2
Identification of a novel mutation in the LOR gene in an Iraqi patient with loricrin keratoderma resembling epidermolytic hyperkeratosis. ( 27520397 )
2016
3
Use of the frozen section 'jelly-roll' technique to aid in the diagnosis of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis). ( 26969483 )
2016
4
Linear Nevoid Epidermolytic Hyperkeratosis Localized to the Sole. ( 26790514 )
2015
5
S159P mutation of keratin 10 gene causes severe form of epidermolytic hyperkeratosis. ( 26373619 )
2015
6
Epidermolytic Hyperkeratosis--case report. ( 26734873 )
2015
7
Systematized linear epidermolytic hyperkeratosis. ( 24456951 )
2014
8
Epidermolytic hyperkeratosis of the vulva associated with basal cell carcinoma in a patient with vaginal condyloma acuminatum and vaginal intraepithelial neoplasia harboring HPV, type 42. ( 24758505 )
2014
9
Epidermolytic Hyperkeratosis: One More Pattern of Grover Disease. ( 25436919 )
2014
10
Grover Disease With Features of Epidermolytic Hyperkeratosis. ( 23435360 )
2013
11
Systematized epidermal nevus with epidermolytic hyperkeratosis improving with topical calcipotriol/betametasone dipropionate combination ointment. ( 22938157 )
2013
12
Mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens is related to specific mutation in 2B domain of KRT1. ( 23623204 )
2013
13
A recurrent missense mutation of keratin 1 gene in a Chinese family with epidermolytic hyperkeratosis (severe palmoplantar hyperkeratosis, type 1). ( 22250628 )
2012
14
Novel mutation of the KRT 10 gene in a Japanese patient with epidermolytic hyperkeratosis. ( 21463361 )
2012
15
Extremely severe palmoplantar hyperkeratosis in a generalized epidermolytic hyperkeratosis patient with a keratin 1 gene mutation. ( 21496707 )
2011
16
Epidermolytic hyperkeratosis: a follow-up of 23 years of use of systemic retinoids. ( 22068776 )
2011
17
Incidental cutaneous reaction patterns: epidermolytic hyperkeratosis, acantholytic dyskeratosis, and hailey-hailey-like acantholysis: a potential marker of premalignant skin change. ( 21773039 )
2011
18
Epidermolytic hyperkeratosis in inflammatory linear verrucous epidermal nevus. ( 21772595 )
2011
19
Epidermolytic hyperkeratosis and congenital platelike osteoma cutis in a child. ( 21838083 )
2011
20
Localised epidermolytic hyperkeratosis of the vulva: a case of mistaken identity. ( 20632830 )
2010
21
Two cases of linear epidermolytic hyperkeratosis: therapeutic challenge with acitretin. ( 20388608 )
2010
22
Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene. ( 19474805 )
2009
23
Acitretin + EHK = PG: Toe web pyogenic granuloma in a man with total body epidermolytic hyperkeratosis on acitretin--report of a unique occurrence. ( 20102018 )
2009
24
Bullous ichthyosiform erythroderma in a child born to a parent with systematized linear epidermolytic hyperkeratosis. ( 19200214 )
2009
25
Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation. ( 19443303 )
2009
26
A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma. ( 18360110 )
2008
27
Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders. ( 18571597 )
2008
28
Pityriasis rubra pilaris with epidermolytic hyperkeratosis. ( 19112765 )
2008
29
A case of epidermolytic hyperkeratosis with no facial involvement associated with mutation in keratin 10. ( 18261139 )
2008
30
Multiple nonmelanoma skin cancers in a patient with epidermolytic hyperkeratosis on long-standing retinoid therapy. ( 18505142 )
2008
31
Nevus comedonicus with epidermolytic hyperkeratosis. ( 17337416 )
2007
32
Epidermolytic hyperkeratosis type NPS-3: a case report. ( 17433175 )
2007
33
Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis. ( 17255957 )
2007
34
Epidermolytic hyperkeratosis within infundibular cysts. ( 17381810 )
2007
35
R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosis. ( 17683385 )
2007
36
Epidermolytic hyperkeratosis with a rare digital contracture. ( 17684790 )
2007
37
A novel mutation of the keratin 1 gene in a family with epidermolytic hyperkeratosis. ( 16677804 )
2006
38
A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis. ( 16505000 )
2006
39
A mouse keratin 1 mutation causes dark skin and epidermolytic hyperkeratosis. ( 16528356 )
2006
40
Epidermolytic hyperkeratosis with rickets. ( 16707822 )
2006
41
Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis. ( 16990804 )
2006
42
A sporadic case of epidermolytic hyperkeratosis caused by a novel point mutation in the keratin 1 gene. ( 16487115 )
2006
43
Epidermolytic hyperkeratosis. ( 16962021 )
2006
44
Identification of a de novo keratin 1 mutation in epidermolytic hyperkeratosis with palmoplantar involvement. ( 17101470 )
2006
45
Complex total hip replacement in a patient with epidermolytic hyperkeratosis. A case report. ( 16322630 )
2005
46
Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event. ( 15663649 )
2005
47
A novel threonine to proline mutation in the helix termination motif of keratin 1 in epidermolytic hyperkeratosis with severe palmoplantar hyperkeratosis and contractures of the digits. ( 15888189 )
2005
48
Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1. ( 15663507 )
2005
49
Localized epidermolytic hyperkeratosis of the female genitalia: a case report and review of an underappreciated disorder of women. ( 16614655 )
2005
50
Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs. ( 16029326 )
2005

Variations for Epidermolytic Hyperkeratosis

UniProtKB/Swiss-Prot genetic disease variations for Epidermolytic Hyperkeratosis:

66 (show all 31)
id Symbol AA change Variation ID SNP ID
1 KRT10 p.Asn154His VAR_003826 rs57784225
2 KRT10 p.Arg156His VAR_003827 rs58075662
3 KRT10 p.Arg156Cys VAR_003828 rs58852768
4 KRT10 p.Arg156Pro VAR_003829 rs58075662
5 KRT10 p.Arg156Ser VAR_003830 rs58852768
6 KRT10 p.Tyr160Asp VAR_003831 rs58414354
7 KRT10 p.Leu161Ser VAR_003832 rs60118264
8 KRT10 p.Leu442Gln VAR_003833 rs58026994
9 KRT10 p.Met150Arg VAR_010506 rs58901407
10 KRT10 p.Met150Thr VAR_010507 rs58901407
11 KRT10 p.Tyr160Asn VAR_010508
12 KRT10 p.Tyr160Ser VAR_010509 rs58735429
13 KRT10 p.Lys439Glu VAR_010510 rs61434181
14 KRT10 p.Tyr449Cys VAR_071985 rs267607383
15 KRT1 p.Val155Gly VAR_003853 rs57959072
16 KRT1 p.Leu161Pro VAR_003854 rs57695159
17 KRT1 p.Ser186Pro VAR_003855 rs60022878
18 KRT1 p.Asn188Ser VAR_003856 rs58928370
19 KRT1 p.Ser193Pro VAR_003857 rs60937700
20 KRT1 p.Glu490Gln VAR_003861 rs60279707
21 KRT1 p.Val155Asp VAR_017820 rs57959072
22 KRT1 p.Asn188Lys VAR_017821 rs59429455
23 KRT1 p.Asn188Thr VAR_017822 rs58928370
24 KRT1 p.Leu214Pro VAR_017823 rs61549035
25 KRT1 p.Asp340Val VAR_017824 rs58062863
26 KRT1 p.Ile479Thr VAR_017826 rs57837128
27 KRT1 p.Tyr482Cys VAR_017827 rs58420087
28 KRT1 p.Leu486Pro VAR_017828 rs56914602
29 KRT1 p.Glu478Gln VAR_071986 rs59089201
30 KRT1 p.Leu485Pro VAR_071987 rs267607430
31 KRT1 p.Glu490Lys VAR_071988 rs60279707

ClinVar genetic disease variations for Epidermolytic Hyperkeratosis:

6 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1 KRT10 KRT10, ARG10HIS single nucleotide variant Pathogenic
2 KRT10 NM_000421.3(KRT10): c.482T> C (p.Leu161Ser) single nucleotide variant Pathogenic rs60118264 GRCh37 Chromosome 17, 38978356: 38978356
3 KRT10 KRT10, ARG10LEU undetermined variant Pathogenic
4 KRT10 NM_000421.3(KRT10): c.460A> C (p.Asn154His) single nucleotide variant Pathogenic rs57784225 GRCh37 Chromosome 17, 38978378: 38978378
5 KRT10 NM_000421.3(KRT10): c.478T> G (p.Tyr160Asp) single nucleotide variant Pathogenic rs58414354 GRCh37 Chromosome 17, 38978360: 38978360
6 KRT10 NM_000421.3(KRT10): c.467G> A (p.Arg156His) single nucleotide variant Pathogenic rs58075662 GRCh37 Chromosome 17, 38978371: 38978371
7 KRT10 KRT10, ARG10CYS undetermined variant Pathogenic
8 KRT10 NM_000421.3(KRT10): c.1325T> A (p.Leu442Gln) single nucleotide variant Pathogenic rs58026994 GRCh37 Chromosome 17, 38975817: 38975817
9 KRT10 NM_000421.3(KRT10): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic rs58852768 GRCh37 Chromosome 17, 38978372: 38978372
10 KRT10 NM_000421.3(KRT10): c.449T> G (p.Met150Arg) single nucleotide variant Pathogenic rs58901407 GRCh37 Chromosome 17, 38978389: 38978389
11 KRT10 NM_000421.3(KRT10): c.1315A> G (p.Lys439Glu) single nucleotide variant Pathogenic rs61434181 GRCh37 Chromosome 17, 38975827: 38975827
12 KRT10 NM_000421.3(KRT10): c.449T> C (p.Met150Thr) single nucleotide variant Pathogenic rs58901407 GRCh37 Chromosome 17, 38978389: 38978389
13 KRT1 NM_006121.3(KRT1): c.931G> C (p.Glu311Gln) single nucleotide variant Pathogenic rs137853224 GRCh37 Chromosome 12, 53071466: 53071466
14 KRT1 NM_006121.3(KRT1): c.482T> C (p.Leu161Pro) single nucleotide variant Pathogenic rs57695159 GRCh37 Chromosome 12, 53073651: 53073651
15 KRT1 NM_006121.3(KRT1): c.1445A> G (p.Tyr482Cys) single nucleotide variant Pathogenic rs58420087 GRCh37 Chromosome 12, 53070089: 53070089
16 KRT1 NM_006121.3(KRT1): c.464T> A (p.Val155Asp) single nucleotide variant Pathogenic rs57959072 GRCh37 Chromosome 12, 53073669: 53073669
17 KRT1 NM_006121.3(KRT1): c.564C> A (p.Asn188Lys) single nucleotide variant Pathogenic rs59429455 GRCh37 Chromosome 12, 53073569: 53073569
18 KRT1 NM_006121.3(KRT1): c.1424T> C (p.Leu475Pro) single nucleotide variant Pathogenic rs137853225 GRCh37 Chromosome 12, 53070110: 53070110
19 KRT1 KRT1, 1-BP INS, 1752G insertion Pathogenic
20 KRT10 NM_000421.3(KRT10): c.1300C> T (p.Gln434Ter) single nucleotide variant Pathogenic rs60035576 GRCh37 Chromosome 17, 38975842: 38975842
21 KRT10 NM_000421.3(KRT10): c.1281C> A (p.Cys427Ter) single nucleotide variant Pathogenic rs387906640 GRCh37 Chromosome 17, 38975861: 38975861
22 KRT10 KRT10, 1-BP INS, 1325C insertion Pathogenic
23 KRT10 KRT10, IVS5DS, G-A, +5 single nucleotide variant Pathogenic

Expression for Epidermolytic Hyperkeratosis

Search GEO for disease gene expression data for Epidermolytic Hyperkeratosis.

Pathways for Epidermolytic Hyperkeratosis

Pathways related to Epidermolytic Hyperkeratosis according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.87 FLG KRT1 KRT10 KRT16 KRT17 KRT2
2 11.92 KRT10 KRT17 KRT5
3
Show member pathways
11.78 FLG KRT1 KRT10 KRT16 KRT17 KRT2
4
Show member pathways
11.59 KRT1 KRT16 KRT17 KRT2 KRT5

GO Terms for Epidermolytic Hyperkeratosis

Cellular components related to Epidermolytic Hyperkeratosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.87 KRT1 KRT10 KRT16 KRT17 KRT2 KRT5
2 cytosol GO:0005829 9.85 FLG KRT1 KRT10 KRT16 KRT17 KRT2
3 keratin filament GO:0045095 9.43 KRT1 KRT2 KRT5
4 cornified envelope GO:0001533 9.43 FLG KRT1 KRT10 KRT2 LOR TCHH
5 intermediate filament GO:0005882 9.23 FLG KRT1 KRT10 KRT16 KRT17 KRT2

Biological processes related to Epidermolytic Hyperkeratosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 epidermis development GO:0008544 9.77 KRT16 KRT17 KRT2 KRT5 KRT9
2 keratinocyte differentiation GO:0030216 9.71 FLG KRT10 KRT16 LOR
3 cytoskeleton organization GO:0007010 9.65 KRT16 KRT5 LOR
4 peptide cross-linking GO:0018149 9.65 FLG KRT1 KRT10 KRT2 LOR
5 cornification GO:0070268 9.65 FLG KRT1 KRT10 KRT16 KRT17 KRT2
6 intermediate filament organization GO:0045109 9.62 KRT17 KRT2 KRT9 TCHH
7 establishment of skin barrier GO:0061436 9.61 FLG KRT1 KRT16
8 skin epidermis development GO:0098773 9.55 FLG KRT1 KRT10 KRT2 LOR
9 keratinocyte migration GO:0051546 9.46 KRT16 KRT2
10 keratinization GO:0031424 9.28 KRT1 KRT10 KRT16 KRT17 KRT2 KRT5

Molecular functions related to Epidermolytic Hyperkeratosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.63 FLG KRT1 KRT16 KRT17 KRT2 LOR
2 structural constituent of cytoskeleton GO:0005200 9.43 KRT16 KRT17 KRT2 KRT5 KRT9 LOR
3 transition metal ion binding GO:0046914 9.26 FLG TCHH
4 structural constituent of epidermis GO:0030280 9.02 FLG KRT1 KRT10 KRT2 LOR

Sources for Epidermolytic Hyperkeratosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....