MCID: ECT007
MIFTS: 42

Ectodermal Dysplasia/skin Fragility Syndrome

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

Aliases & Classifications for Ectodermal Dysplasia/skin Fragility Syndrome

MalaCards integrated aliases for Ectodermal Dysplasia/skin Fragility Syndrome:

Name: Ectodermal Dysplasia/skin Fragility Syndrome 57 75 37 13
Mcgrath Syndrome 57 53 59 75
Ectodermal Dysplasia Skin Fragility Syndrome 53 29 6
Ectodermal Dysplasia-Skin Fragility Syndrome 53 59 75
Epidermolysis Bullosa Simplex Due to Plakophilin Deficiency 53 59
Ectodermal Dysplasia - Skin Fragility Syndrome 53
Dysplasia, Ectodermal, Skin Fragility Syndrome 40
Ectodermal Dysplasia/ Skin Fragility Syndrome 73
Edsfs 75

Characteristics:

Orphanet epidemiological data:

59
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 : 53 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 failure to thrive and abnormality of the nail

UniProtKB/Swiss-Prot : 75 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 25)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 10.7
2 skin fragility-woolly hair syndrome 9.9 DSP LOC101928076
3 woolly hair syndrome 9.9 DSP LOC101928076
4 paraneoplastic pemphigus 9.9 DSC2 DSP
5 grover's disease 9.7 DSP JUP
6 arrhythmogenic right ventricular dysplasia, familial, 9 9.6 DSP JUP
7 arrhythmogenic right ventricular dysplasia, familial, 8 9.6 DSP JUP
8 benign chronic pemphigus 9.6 DSP JUP
9 darier-white disease 9.6 DSP JUP
10 arrhythmogenic right ventricular dysplasia, familial, 1 9.6 DSP JUP
11 palmoplantar keratosis 9.5 DSP JUP
12 pemphigus vulgaris 9.4 DSP JUP
13 pemphigus 9.3 DSP JUP
14 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 9.1 DSC2 DSP JUP
15 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 9.1 DSC2 DSP JUP
16 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 9.1 DSC2 DSP JUP
17 palmoplantar keratoderma and woolly hair 9.1 DSC2 DSP JUP
18 naxos disease 9.1 DSC2 DSP JUP
19 intrinsic cardiomyopathy 9.1 DSC2 DSP JUP
20 atrial standstill 1 9.1 DSC2 DSP JUP
21 arrhythmogenic right ventricular cardiomyopathy 9.0 DSC2 DSP JUP
22 epidermolysis bullosa, lethal acantholytic 9.0 DSP JUP LOC101928076
23 cardiomyopathy, dilated, with woolly hair and keratoderma 9.0 DSP JUP LOC101928076
24 left ventricular noncompaction 9.0 DSP JUP
25 dilated cardiomyopathy 8.6 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

Clinical features from OMIM:

604536

Human phenotypes related to Ectodermal Dysplasia/skin Fragility Syndrome:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
2 abnormality of the nail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001597
3 immunodeficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002721
4 palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000982
5 pruritus 59 32 frequent (33%) Frequent (79-30%) HP:0000989
6 dry skin 59 32 frequent (33%) Frequent (79-30%) HP:0000958
7 alopecia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001596
8 skin ulcer 59 32 hallmark (90%) Very frequent (99-80%) HP:0200042
9 blepharitis 59 32 frequent (33%) Frequent (79-30%) HP:0000498
10 hypotrichosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001006
11 erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0010783
12 chronic diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002028
13 furrowed tongue 59 32 frequent (33%) Frequent (79-30%) HP:0000221
14 woolly hair 59 32 occasional (7.5%) Occasional (29-5%) HP:0002224
15 absent eyelashes 59 32 hallmark (90%) Very frequent (99-80%) HP:0000561
16 skin vesicle 59 32 hallmark (90%) Very frequent (99-80%) HP:0200037
17 hyperkeratosis 59 Frequent (79-30%)
18 abnormality of the eyebrow 59 Very frequent (99-80%)
19 ectodermal dysplasia 32 HP:0000968
20 fragile skin 32 HP:0001030
21 abnormal eyebrow morphology 32 hallmark (90%) HP:0000534

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 29 PKP1

Anatomical Context for Ectodermal Dysplasia/skin Fragility Syndrome

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

41
Skin, Tongue, Eye

Publications for Ectodermal Dysplasia/skin Fragility Syndrome

Articles related to Ectodermal Dysplasia/skin Fragility Syndrome:

(show all 17)
# 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
Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1. ( 27554337 )
2016
4
Ectodermal Dysplasia-Skin Fragility Syndrome: A Rare Case Report. ( 26288439 )
2015
5
A plakophilin-1 gene mutation in an egyptian family with ectodermal dysplasia-skin fragility syndrome. ( 25565931 )
2014
6
Ectodermal dysplasia-skin fragility syndrome: a novel mutation in the PKP1 gene. ( 24073657 )
2013
7
Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs. ( 22384142 )
2012
8
Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene. ( 22309335 )
2012
9
Ectodermal dysplasia-skin fragility syndrome. ( 21727700 )
2011
10
Ectodermal dysplasia-skin fragility syndrome. ( 19945625 )
2010
11
Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1. ( 16781314 )
2006
12
Histopathological and ultrastructural study of ectodermal dysplasia/skin fragility syndrome. ( 16121056 )
2005
13
Clinical and molecular significance of splice site mutations in the plakophilin 1 gene in patients with ectodermal dysplasia-skin fragility syndrome. ( 16159727 )
2005
14
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
15
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
16
Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome. ( 10951270 )
2000
17
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 380)
# Gene Variation Type Significance SNP ID Assembly Location
1 PKP1 NM_000299.3(PKP1): c.910C> T (p.Gln304Ter) single nucleotide variant Pathogenic rs121918354 GRCh37 Chromosome 1, 201286763: 201286763
2 PKP1 NM_000299.3(PKP1): c.910C> T (p.Gln304Ter) single nucleotide variant Pathogenic rs121918354 GRCh38 Chromosome 1, 201317635: 201317635
3 PKP1 PKP1, 28-BP DUP, NT1132 duplication Pathogenic
4 PKP1 PKP1, IVS6, A-T, -2 single nucleotide variant Pathogenic
5 DSP NM_004415.3(DSP): c.1696G> A (p.Ala566Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs148147581 GRCh37 Chromosome 6, 7570791: 7570791
6 DSP NM_004415.3(DSP): c.1696G> A (p.Ala566Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs148147581 GRCh38 Chromosome 6, 7570558: 7570558
7 DSP NM_004415.3(DSP): c.5513G> A (p.Arg1838His) single nucleotide variant Conflicting interpretations of pathogenicity rs377715841 GRCh37 Chromosome 6, 7583008: 7583008
8 DSP NM_004415.3(DSP): c.5513G> A (p.Arg1838His) single nucleotide variant Conflicting interpretations of pathogenicity rs377715841 GRCh38 Chromosome 6, 7582775: 7582775
9 DSP NM_004415.3(DSP): c.2723G> A (p.Arg908His) single nucleotide variant Conflicting interpretations of pathogenicity rs142494121 GRCh37 Chromosome 6, 7576619: 7576619
10 DSP NM_004415.3(DSP): c.2723G> A (p.Arg908His) single nucleotide variant Conflicting interpretations of pathogenicity rs142494121 GRCh38 Chromosome 6, 7576386: 7576386
11 DSP NM_004415.3(DSP): c.3507C> T (p.Tyr1169=) single nucleotide variant Likely benign rs148894066 GRCh37 Chromosome 6, 7579930: 7579930
12 DSP NM_004415.3(DSP): c.3507C> T (p.Tyr1169=) single nucleotide variant Likely benign rs148894066 GRCh38 Chromosome 6, 7579697: 7579697
13 DSP NM_004415.3(DSP): c.3862A> C (p.Lys1288Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138907450 GRCh37 Chromosome 6, 7580285: 7580285
14 DSP NM_004415.3(DSP): c.3862A> C (p.Lys1288Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138907450 GRCh38 Chromosome 6, 7580052: 7580052
15 DSP NM_004415.3(DSP): c.1743C> T (p.Ala581=) single nucleotide variant Conflicting interpretations of pathogenicity rs139095230 GRCh37 Chromosome 6, 7571657: 7571657
16 DSP NM_004415.3(DSP): c.1743C> T (p.Ala581=) single nucleotide variant Conflicting interpretations of pathogenicity rs139095230 GRCh38 Chromosome 6, 7571424: 7571424
17 DSP NM_004415.3(DSP): c.3650C> T (p.Thr1217Met) single nucleotide variant Conflicting interpretations of pathogenicity rs535202724 GRCh37 Chromosome 6, 7580073: 7580073
18 DSP NM_004415.3(DSP): c.3650C> T (p.Thr1217Met) single nucleotide variant Conflicting interpretations of pathogenicity rs535202724 GRCh38 Chromosome 6, 7579840: 7579840
19 DSP NM_004415.3(DSP): c.3923G> A (p.Arg1308Gln) single nucleotide variant Benign/Likely benign rs184154918 GRCh37 Chromosome 6, 7580346: 7580346
20 DSP NM_004415.3(DSP): c.3923G> A (p.Arg1308Gln) single nucleotide variant Benign/Likely benign rs184154918 GRCh38 Chromosome 6, 7580113: 7580113
21 DSP NM_004415.3(DSP): c.5178C> A (p.Asn1726Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147415451 GRCh37 Chromosome 6, 7581601: 7581601
22 DSP NM_004415.3(DSP): c.5178C> A (p.Asn1726Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147415451 GRCh38 Chromosome 6, 7581368: 7581368
23 DSP NM_004415.3(DSP): c.5544G> A (p.Arg1848=) single nucleotide variant Conflicting interpretations of pathogenicity rs727503004 GRCh37 Chromosome 6, 7583039: 7583039
24 DSP NM_004415.3(DSP): c.5544G> A (p.Arg1848=) single nucleotide variant Conflicting interpretations of pathogenicity rs727503004 GRCh38 Chromosome 6, 7582806: 7582806
25 DSP NM_004415.3(DSP): c.5304G> C (p.Gly1768=) single nucleotide variant Benign/Likely benign rs530612211 GRCh37 Chromosome 6, 7581727: 7581727
26 DSP NM_004415.3(DSP): c.5304G> C (p.Gly1768=) single nucleotide variant Benign/Likely benign rs530612211 GRCh38 Chromosome 6, 7581494: 7581494
27 DSP NM_004415.3(DSP): c.5523A> C (p.Ser1841=) single nucleotide variant Conflicting interpretations of pathogenicity rs730882116 GRCh37 Chromosome 6, 7583018: 7583018
28 DSP NM_004415.3(DSP): c.5523A> C (p.Ser1841=) single nucleotide variant Conflicting interpretations of pathogenicity rs730882116 GRCh38 Chromosome 6, 7582785: 7582785
29 DSP NM_004415.3(DSP): c.7916G> A (p.Arg2639Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs116888866 GRCh37 Chromosome 6, 7585411: 7585411
30 DSP NM_004415.3(DSP): c.7916G> A (p.Arg2639Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs116888866 GRCh38 Chromosome 6, 7585178: 7585178
31 DSP NM_004415.3(DSP): c.8191T> C (p.Tyr2731His) single nucleotide variant Conflicting interpretations of pathogenicity rs201397978 GRCh37 Chromosome 6, 7585686: 7585686
32 DSP NM_004415.3(DSP): c.8191T> C (p.Tyr2731His) single nucleotide variant Conflicting interpretations of pathogenicity rs201397978 GRCh38 Chromosome 6, 7585453: 7585453
33 DSP NM_004415.3(DSP): c.264C> T (p.Ile88=) single nucleotide variant Conflicting interpretations of pathogenicity rs727502997 GRCh37 Chromosome 6, 7556044: 7556044
34 DSP NM_004415.3(DSP): c.264C> T (p.Ile88=) single nucleotide variant Conflicting interpretations of pathogenicity rs727502997 GRCh38 Chromosome 6, 7555811: 7555811
35 DSP NM_004415.3(DSP): c.269A> G (p.Gln90Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs188516326 GRCh37 Chromosome 6, 7556049: 7556049
36 DSP NM_004415.3(DSP): c.269A> G (p.Gln90Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs188516326 GRCh38 Chromosome 6, 7555816: 7555816
37 DSP NM_004415.3(DSP): c.4886G> T (p.Ser1629Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs200243976 GRCh37 Chromosome 6, 7581309: 7581309
38 DSP NM_004415.3(DSP): c.4886G> T (p.Ser1629Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs200243976 GRCh38 Chromosome 6, 7581076: 7581076
39 DSP NM_004415.3(DSP): c.6307A> G (p.Lys2103Glu) single nucleotide variant Uncertain significance rs149513743 GRCh37 Chromosome 6, 7583802: 7583802
40 DSP NM_004415.3(DSP): c.6307A> G (p.Lys2103Glu) single nucleotide variant Uncertain significance rs149513743 GRCh38 Chromosome 6, 7583569: 7583569
41 DSP NM_004415.3(DSP): c.7125G> A (p.Gly2375=) single nucleotide variant Conflicting interpretations of pathogenicity rs141709096 GRCh37 Chromosome 6, 7584620: 7584620
42 DSP NM_004415.3(DSP): c.7125G> A (p.Gly2375=) single nucleotide variant Conflicting interpretations of pathogenicity rs141709096 GRCh38 Chromosome 6, 7584387: 7584387
43 DSP NM_004415.3(DSP): c.4741A> G (p.Lys1581Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs186842903 GRCh38 Chromosome 6, 7580931: 7580931
44 DSP NM_004415.3(DSP): c.4741A> G (p.Lys1581Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs186842903 GRCh37 Chromosome 6, 7581164: 7581164
45 DSP NM_004415.3(DSP): c.2774G> A (p.Arg925Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs139799237 GRCh38 Chromosome 6, 7576437: 7576437
46 DSP NM_004415.3(DSP): c.2774G> A (p.Arg925Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs139799237 GRCh37 Chromosome 6, 7576670: 7576670
47 DSP NM_004415.3(DSP): c.5827A> G (p.Arg1943Gly) single nucleotide variant Uncertain significance rs140663822 GRCh37 Chromosome 6, 7583322: 7583322
48 DSP NM_004415.3(DSP): c.5827A> G (p.Arg1943Gly) single nucleotide variant Uncertain significance rs140663822 GRCh38 Chromosome 6, 7583089: 7583089
49 DSP NM_004415.3(DSP): c.6479G> A (p.Arg2160Gln) single nucleotide variant Uncertain significance rs146642551 GRCh37 Chromosome 6, 7583974: 7583974
50 DSP NM_004415.3(DSP): c.6479G> A (p.Arg2160Gln) single nucleotide variant Uncertain significance rs146642551 GRCh38 Chromosome 6, 7583741: 7583741

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 9.67 DSC2 DSP JUP PKP1
2 intermediate filament GO:0005882 9.5 DSP JUP PKP1
3 cell-cell junction GO:0005911 9.46 DSP JUP
4 cell-cell adherens junction GO:0005913 9.43 DSC2 JUP
5 ficolin-1-rich granule membrane GO:0101003 9.4 DSP PKP1
6 intercalated disc GO:0014704 9.33 DSC2 DSP JUP
7 fascia adherens GO:0005916 9.26 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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