EDSFS
MCID: ECT007
MIFTS: 42

Ectodermal Dysplasia/skin Fragility Syndrome (EDSFS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ectodermal Dysplasia/skin Fragility Syndrome

MalaCards integrated aliases for Ectodermal Dysplasia/skin Fragility Syndrome:

Name: Ectodermal Dysplasia/skin Fragility Syndrome 58 76 38 13
Mcgrath Syndrome 58 54 60 76
Ectodermal Dysplasia Skin Fragility Syndrome 54 30 6
Ectodermal Dysplasia-Skin Fragility Syndrome 54 60 76
Epidermolysis Bullosa Simplex Due to Plakophilin Deficiency 54 60
Ectodermal Dysplasia - Skin Fragility Syndrome 54
Dysplasia, Ectodermal, Skin Fragility Syndrome 41
Ectodermal Dysplasia/ Skin Fragility Syndrome 74
Edsfs 76

Characteristics:

Orphanet epidemiological data:

60
epidermolysis bullosa simplex due to plakophilin deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



Summaries for Ectodermal Dysplasia/skin Fragility Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 158668Disease definitionEpidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering.EpidemiologyPrevalence is unknown but 11 cases have been reported to date.Clinical descriptionOnset of the disease is usually at birth with skin blistering and generalized erythema which rapidly regresses. Skin erosions and crusting are associated with dystrophic nails, hypotrichosis or alopecia with absent or sparse eyelashes and eyebrows, palmoplantar keratoderma with painful fissuring, chronic cheilitis with perioral cracking. Occasionally hair may be woolly rather than reduced. Other variable cutaneous findings and symptoms include follicular hyperkeratosis, perianal erythema and erosions, inflammatory scaly plaques in the flexures, and pruritus. Extracutaneous involvement is usually present, typically with growth retardation, and, in some cases, with recurrent infections, chronic diarrhea, tongue fissuring, and blepharitis.EtiologyEBS-PD is due to mutations in the PKP1 (1q32) gene encoding plakophilin-1.Genetic counselingTransmission is autosomal recessive.PrognosisThe disease is frequently associated with significant morbidity, but life-expectancy does not seem to be affected.Visit the Orphanet disease page for more resources.

MalaCards based summary : Ectodermal Dysplasia/skin Fragility Syndrome, also known as mcgrath syndrome, is related to ectodermal dysplasia and skin fragility-woolly hair syndrome. An important gene associated with Ectodermal Dysplasia/skin Fragility Syndrome is PKP1 (Plakophilin 1), and among its related pathways/superpathways are Developmental Biology and Arrhythmogenic right ventricular cardiomyopathy (ARVC). Affiliated tissues include skin, tongue and eye, and related phenotypes are abnormality of the nail and palmoplantar keratoderma

UniProtKB/Swiss-Prot : 76 Ectodermal dysplasia-skin fragility syndrome: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by features of both cutaneous fragility and congenital ectodermal dysplasia affecting skin, hair and nails. There is no evidence of significant abnormalities in other epithelia or tissues. Desmosomes in the skin are small and poorly formed with widening of keratinocyte intercellular spaces and perturbed desmosome/keratin intermediate filament interactions.

Description from OMIM: 604536

Related Diseases for Ectodermal Dysplasia/skin Fragility Syndrome

Diseases related to Ectodermal Dysplasia/skin Fragility Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 31.4 DSP PKP1
2 skin fragility-woolly hair syndrome 10.0 DSP LOC101928076
3 woolly hair syndrome 10.0 DSP LOC101928076
4 bullous skin disease 9.9 DSC2 DSP
5 paraneoplastic pemphigus 9.9 DSC2 DSP
6 grover's disease 9.9 DSP JUP
7 arrhythmogenic right ventricular dysplasia, familial, 1 9.8 DSP JUP
8 arrhythmogenic right ventricular dysplasia, familial, 9 9.8 DSP JUP
9 arrhythmogenic right ventricular dysplasia, familial, 8 9.8 DSP JUP
10 benign chronic pemphigus 9.8 DSP JUP
11 pemphigus 9.8 DSP JUP
12 darier-white disease 9.8 DSP JUP
13 palmoplantar keratosis 9.7 DSP JUP
14 pemphigus vulgaris 9.7 DSP JUP
15 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 9.6 DSC2 DSP JUP
16 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 9.6 DSC2 DSP JUP
17 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 9.6 DSC2 DSP JUP
18 palmoplantar keratoderma and woolly hair 9.6 DSC2 DSP JUP
19 naxos disease 9.6 DSC2 DSP JUP
20 intrinsic cardiomyopathy 9.6 DSC2 DSP JUP
21 atrial standstill 1 9.6 DSC2 DSP JUP
22 arrhythmogenic right ventricular cardiomyopathy 9.5 DSC2 DSP JUP
23 epidermolysis bullosa, lethal acantholytic 9.5 DSP JUP LOC101928076
24 left ventricular noncompaction 9.5 DSP JUP
25 cardiomyopathy, dilated, with woolly hair and keratoderma 9.3 DSC2 DSP JUP PKP1
26 dilated cardiomyopathy 9.3 DSC2 DSP JUP

Graphical network of the top 20 diseases related to Ectodermal Dysplasia/skin Fragility Syndrome:



Diseases related to Ectodermal Dysplasia/skin Fragility Syndrome

Symptoms & Phenotypes for Ectodermal Dysplasia/skin Fragility Syndrome

Human phenotypes related to Ectodermal Dysplasia/skin Fragility Syndrome:

60 33 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the nail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001597
2 palmoplantar keratoderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000982
3 alopecia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001596
4 skin ulcer 60 33 hallmark (90%) Very frequent (99-80%) HP:0200042
5 hypotrichosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001006
6 erythema 60 33 hallmark (90%) Very frequent (99-80%) HP:0010783
7 absent eyelashes 60 33 hallmark (90%) Very frequent (99-80%) HP:0000561
8 skin vesicle 60 33 hallmark (90%) Very frequent (99-80%) HP:0200037
9 abnormal eyebrow morphology 33 hallmark (90%) HP:0000534
10 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
11 immunodeficiency 60 33 frequent (33%) Frequent (79-30%) HP:0002721
12 pruritus 60 33 frequent (33%) Frequent (79-30%) HP:0000989
13 dry skin 60 33 frequent (33%) Frequent (79-30%) HP:0000958
14 blepharitis 60 33 frequent (33%) Frequent (79-30%) HP:0000498
15 chronic diarrhea 60 33 frequent (33%) Frequent (79-30%) HP:0002028
16 furrowed tongue 60 33 frequent (33%) Frequent (79-30%) HP:0000221
17 woolly hair 60 33 occasional (7.5%) Occasional (29-5%) HP:0002224
18 hyperkeratosis 60 Frequent (79-30%)
19 abnormality of the eyebrow 60 Very frequent (99-80%)
20 ectodermal dysplasia 33 HP:0000968
21 fragile skin 33 HP:0001030

Clinical features from OMIM:

604536

Drugs & Therapeutics for Ectodermal Dysplasia/skin Fragility Syndrome

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia/skin Fragility Syndrome

Genetic Tests for Ectodermal Dysplasia/skin Fragility Syndrome

Genetic tests related to Ectodermal Dysplasia/skin Fragility Syndrome:

# Genetic test Affiliating Genes
1 Ectodermal Dysplasia Skin Fragility Syndrome 30 PKP1

Anatomical Context for Ectodermal Dysplasia/skin Fragility Syndrome

MalaCards organs/tissues related to Ectodermal Dysplasia/skin Fragility Syndrome:

42
Skin, Tongue, Eye

Publications for Ectodermal Dysplasia/skin Fragility Syndrome

Articles related to Ectodermal Dysplasia/skin Fragility Syndrome:

(show all 18)
# Title Authors Year
1
Ectodermal dysplasia-skin fragility syndrome with a new mutation. ( 28540868 )
2017
2
Erratum: Ectodermal dysplasia skin fragility syndrome with a new mutation. ( 28584224 )
2017
3
A case of mosaicism in ectodermal dysplasia-skin fragility syndrome. ( 28182260 )
2017
4
Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1. ( 27554337 )
2016
5
Ectodermal Dysplasia-Skin Fragility Syndrome: A Rare Case Report. ( 26288439 )
2015
6
A plakophilin-1 gene mutation in an egyptian family with ectodermal dysplasia-skin fragility syndrome. ( 25565931 )
2014
7
Ectodermal dysplasia-skin fragility syndrome: a novel mutation in the PKP1 gene. ( 24073657 )
2013
8
Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs. ( 22384142 )
2012
9
Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene. ( 22309335 )
2012
10
Ectodermal dysplasia-skin fragility syndrome. ( 21727700 )
2011
11
Ectodermal dysplasia-skin fragility syndrome. ( 19945625 )
2010
12
Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1. ( 16781314 )
2006
13
Histopathological and ultrastructural study of ectodermal dysplasia/skin fragility syndrome. ( 16121056 )
2005
14
Clinical and molecular significance of splice site mutations in the plakophilin 1 gene in patients with ectodermal dysplasia-skin fragility syndrome. ( 16159727 )
2005
15
Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome. ( 16159729 )
2005
16
Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families. ( 15086548 )
2004
17
Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome. ( 10951270 )
2000
18
Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. ( 9326952 )
1997

Variations for Ectodermal Dysplasia/skin Fragility Syndrome

ClinVar genetic disease variations for Ectodermal Dysplasia/skin Fragility Syndrome:

6 (show top 50) (show all 487)
# Gene Variation Type Significance SNP ID Assembly Location
1 DSP NM_004415.3(DSP): c.1696G> A (p.Ala566Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs148147581 GRCh37 Chromosome 6, 7570791: 7570791
2 DSP NM_004415.3(DSP): c.1696G> A (p.Ala566Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs148147581 GRCh38 Chromosome 6, 7570558: 7570558
3 DSP NM_001008844.2(DSP): c.3716G> A (p.Arg1239His) single nucleotide variant Conflicting interpretations of pathogenicity rs377715841 GRCh37 Chromosome 6, 7583008: 7583008
4 DSP NM_001008844.2(DSP): c.3716G> A (p.Arg1239His) single nucleotide variant Conflicting interpretations of pathogenicity rs377715841 GRCh38 Chromosome 6, 7582775: 7582775
5 DSP NM_004415.3(DSP): c.2723G> A (p.Arg908His) single nucleotide variant Conflicting interpretations of pathogenicity rs142494121 GRCh37 Chromosome 6, 7576619: 7576619
6 DSP NM_004415.3(DSP): c.2723G> A (p.Arg908His) single nucleotide variant Conflicting interpretations of pathogenicity rs142494121 GRCh38 Chromosome 6, 7576386: 7576386
7 DSP NM_004415.3(DSP): c.3507C> T (p.Tyr1169=) single nucleotide variant Likely benign rs148894066 GRCh37 Chromosome 6, 7579930: 7579930
8 DSP NM_004415.3(DSP): c.3507C> T (p.Tyr1169=) single nucleotide variant Likely benign rs148894066 GRCh38 Chromosome 6, 7579697: 7579697
9 DSP NM_004415.3(DSP): c.3862A> C (p.Lys1288Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138907450 GRCh37 Chromosome 6, 7580285: 7580285
10 DSP NM_004415.3(DSP): c.3862A> C (p.Lys1288Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138907450 GRCh38 Chromosome 6, 7580052: 7580052
11 DSP NM_004415.3(DSP): c.1743C> T (p.Ala581=) single nucleotide variant Conflicting interpretations of pathogenicity rs139095230 GRCh37 Chromosome 6, 7571657: 7571657
12 DSP NM_004415.3(DSP): c.1743C> T (p.Ala581=) single nucleotide variant Conflicting interpretations of pathogenicity rs139095230 GRCh38 Chromosome 6, 7571424: 7571424
13 DSP NM_004415.3(DSP): c.3650C> T (p.Thr1217Met) single nucleotide variant Conflicting interpretations of pathogenicity rs535202724 GRCh37 Chromosome 6, 7580073: 7580073
14 DSP NM_004415.3(DSP): c.3650C> T (p.Thr1217Met) single nucleotide variant Conflicting interpretations of pathogenicity rs535202724 GRCh38 Chromosome 6, 7579840: 7579840
15 DSP NM_004415.3(DSP): c.3923G> A (p.Arg1308Gln) single nucleotide variant Benign/Likely benign rs184154918 GRCh37 Chromosome 6, 7580346: 7580346
16 DSP NM_004415.3(DSP): c.3923G> A (p.Arg1308Gln) single nucleotide variant Benign/Likely benign rs184154918 GRCh38 Chromosome 6, 7580113: 7580113
17 DSP NM_004415.3(DSP): c.5178C> A (p.Asn1726Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147415451 GRCh37 Chromosome 6, 7581601: 7581601
18 DSP NM_004415.3(DSP): c.5178C> A (p.Asn1726Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147415451 GRCh38 Chromosome 6, 7581368: 7581368
19 DSP NM_004415.3(DSP): c.5544G> A (p.Arg1848=) single nucleotide variant Conflicting interpretations of pathogenicity rs727503004 GRCh37 Chromosome 6, 7583039: 7583039
20 DSP NM_004415.3(DSP): c.5544G> A (p.Arg1848=) single nucleotide variant Conflicting interpretations of pathogenicity rs727503004 GRCh38 Chromosome 6, 7582806: 7582806
21 DSP NM_004415.3(DSP): c.5304G> C (p.Gly1768=) single nucleotide variant Benign/Likely benign rs530612211 GRCh38 Chromosome 6, 7581494: 7581494
22 DSP NM_004415.3(DSP): c.5304G> C (p.Gly1768=) single nucleotide variant Benign/Likely benign rs530612211 GRCh37 Chromosome 6, 7581727: 7581727
23 DSP NM_004415.3(DSP): c.5523A> C (p.Ser1841=) single nucleotide variant Conflicting interpretations of pathogenicity rs730882116 GRCh37 Chromosome 6, 7583018: 7583018
24 DSP NM_004415.3(DSP): c.5523A> C (p.Ser1841=) single nucleotide variant Conflicting interpretations of pathogenicity rs730882116 GRCh38 Chromosome 6, 7582785: 7582785
25 DSP NM_004415.3(DSP): c.7916G> A (p.Arg2639Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs116888866 GRCh37 Chromosome 6, 7585411: 7585411
26 DSP NM_004415.3(DSP): c.7916G> A (p.Arg2639Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs116888866 GRCh38 Chromosome 6, 7585178: 7585178
27 DSP NM_004415.3(DSP): c.8191T> C (p.Tyr2731His) single nucleotide variant Conflicting interpretations of pathogenicity rs201397978 GRCh37 Chromosome 6, 7585686: 7585686
28 DSP NM_004415.3(DSP): c.8191T> C (p.Tyr2731His) single nucleotide variant Conflicting interpretations of pathogenicity rs201397978 GRCh38 Chromosome 6, 7585453: 7585453
29 DSP NM_004415.3(DSP): c.264C> T (p.Ile88=) single nucleotide variant Conflicting interpretations of pathogenicity rs727502997 GRCh37 Chromosome 6, 7556044: 7556044
30 DSP NM_004415.3(DSP): c.264C> T (p.Ile88=) single nucleotide variant Conflicting interpretations of pathogenicity rs727502997 GRCh38 Chromosome 6, 7555811: 7555811
31 DSP NM_004415.3(DSP): c.269A> G (p.Gln90Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs188516326 GRCh37 Chromosome 6, 7556049: 7556049
32 DSP NM_004415.3(DSP): c.269A> G (p.Gln90Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs188516326 GRCh38 Chromosome 6, 7555816: 7555816
33 DSP NM_004415.3(DSP): c.4886G> T (p.Ser1629Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs200243976 GRCh37 Chromosome 6, 7581309: 7581309
34 DSP NM_004415.3(DSP): c.4886G> T (p.Ser1629Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs200243976 GRCh38 Chromosome 6, 7581076: 7581076
35 DSP NM_001008844.2(DSP): c.4510A> G (p.Lys1504Glu) single nucleotide variant Uncertain significance rs149513743 GRCh37 Chromosome 6, 7583802: 7583802
36 DSP NM_001008844.2(DSP): c.4510A> G (p.Lys1504Glu) single nucleotide variant Uncertain significance rs149513743 GRCh38 Chromosome 6, 7583569: 7583569
37 DSP NM_004415.3(DSP): c.7125G> A (p.Gly2375=) single nucleotide variant Conflicting interpretations of pathogenicity rs141709096 GRCh37 Chromosome 6, 7584620: 7584620
38 DSP NM_004415.3(DSP): c.7125G> A (p.Gly2375=) single nucleotide variant Conflicting interpretations of pathogenicity rs141709096 GRCh38 Chromosome 6, 7584387: 7584387
39 DSP NM_004415.3(DSP): c.4741A> G (p.Lys1581Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs186842903 GRCh38 Chromosome 6, 7580931: 7580931
40 DSP NM_004415.3(DSP): c.4741A> G (p.Lys1581Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs186842903 GRCh37 Chromosome 6, 7581164: 7581164
41 DSP NM_004415.3(DSP): c.2774G> A (p.Arg925Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs139799237 GRCh38 Chromosome 6, 7576437: 7576437
42 DSP NM_004415.3(DSP): c.2774G> A (p.Arg925Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs139799237 GRCh37 Chromosome 6, 7576670: 7576670
43 DSP NM_004415.3(DSP): c.5827A> G (p.Arg1943Gly) single nucleotide variant Uncertain significance rs140663822 GRCh37 Chromosome 6, 7583322: 7583322
44 DSP NM_004415.3(DSP): c.5827A> G (p.Arg1943Gly) single nucleotide variant Uncertain significance rs140663822 GRCh38 Chromosome 6, 7583089: 7583089
45 DSP NM_004415.3(DSP): c.6479G> A (p.Arg2160Gln) single nucleotide variant Uncertain significance rs146642551 GRCh37 Chromosome 6, 7583974: 7583974
46 DSP NM_004415.3(DSP): c.6479G> A (p.Arg2160Gln) single nucleotide variant Uncertain significance rs146642551 GRCh38 Chromosome 6, 7583741: 7583741
47 PKP1 NM_000299.3(PKP1): c.910C> T (p.Gln304Ter) single nucleotide variant Pathogenic rs121918354 GRCh37 Chromosome 1, 201286763: 201286763
48 PKP1 NM_000299.3(PKP1): c.910C> T (p.Gln304Ter) single nucleotide variant Pathogenic rs121918354 GRCh38 Chromosome 1, 201317635: 201317635
49 PKP1 PKP1, 28-BP DUP, NT1132 duplication Pathogenic
50 PKP1 NM_000299.3(PKP1): c.1296-2A> T single nucleotide variant Pathogenic GRCh38 Chromosome 1, 201320265: 201320265

Expression for Ectodermal Dysplasia/skin Fragility Syndrome

Search GEO for disease gene expression data for Ectodermal Dysplasia/skin Fragility Syndrome.

Pathways for Ectodermal Dysplasia/skin Fragility Syndrome

GO Terms for Ectodermal Dysplasia/skin Fragility Syndrome

Cellular components related to Ectodermal Dysplasia/skin Fragility Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.73 DSC2 DSP JUP PKP1
2 intermediate filament GO:0005882 9.58 DSP JUP PKP1
3 cell-cell junction GO:0005911 9.54 DSP JUP PKP1
4 ficolin-1-rich granule membrane GO:0101003 9.46 DSP PKP1
5 cell-cell adherens junction GO:0005913 9.43 DSC2 JUP PKP1
6 intercalated disc GO:0014704 9.33 DSC2 DSP JUP
7 fascia adherens GO:0005916 9.32 DSP JUP
8 cornified envelope GO:0001533 9.26 DSC2 DSP JUP PKP1
9 desmosome GO:0030057 8.92 DSC2 DSP JUP PKP1

Biological processes related to Ectodermal Dysplasia/skin Fragility Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.65 DSC2 JUP PKP1
2 neutrophil degranulation GO:0043312 9.63 DSP JUP PKP1
3 keratinization GO:0031424 9.56 DSC2 DSP JUP PKP1
4 cell-cell adhesion GO:0098609 9.54 DSP JUP PKP1
5 regulation of heart rate by cardiac conduction GO:0086091 9.5 DSC2 DSP JUP
6 cornification GO:0070268 9.46 DSC2 DSP JUP PKP1
7 skin development GO:0043588 9.43 DSP JUP
8 adherens junction organization GO:0034332 9.4 DSP JUP
9 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.13 DSC2 DSP JUP
10 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 8.8 DSC2 DSP JUP

Molecular functions related to Ectodermal Dysplasia/skin Fragility Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion molecule binding GO:0050839 8.96 DSP JUP
2 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.8 DSC2 DSP JUP

Sources for Ectodermal Dysplasia/skin Fragility Syndrome

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
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35 ICD10 via Orphanet
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46 MESH via Orphanet
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59 OMIM via Orphanet
63 PubMed
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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