EDSFS
MCID: ECT007
MIFTS: 43

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 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 grover's disease. 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 26)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 31.3 DSP PKP1
2 grover's disease 10.0 DSP JUP
3 arrhythmogenic right ventricular dysplasia, familial, 1 10.0 DSP JUP
4 arrhythmogenic right ventricular dysplasia, familial, 9 10.0 DSP JUP
5 arrhythmogenic right ventricular dysplasia, familial, 8 10.0 DSP JUP
6 benign chronic pemphigus 10.0 DSP JUP
7 skin fragility-woolly hair syndrome 10.0 DSP LOC101928076
8 pemphigus 10.0 DSP JUP
9 woolly hair syndrome 10.0 DSP LOC101928076
10 darier-white disease 10.0 DSP JUP
11 palmoplantar keratosis 9.9 DSP JUP
12 pemphigus vulgaris 9.9 DSP JUP
13 bullous skin disease 9.8 DSC2 DSP
14 paraneoplastic pemphigus 9.8 DSC2 DSP
15 epidermolysis bullosa, lethal acantholytic 9.8 DSP JUP LOC101928076
16 left ventricular noncompaction 9.8 DSP JUP
17 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 9.7 DSC2 DSP JUP
18 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 9.7 DSC2 DSP JUP
19 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 9.7 DSC2 DSP JUP
20 palmoplantar keratoderma and woolly hair 9.7 DSC2 DSP JUP
21 naxos disease 9.7 DSC2 DSP JUP
22 intrinsic cardiomyopathy 9.7 DSC2 DSP JUP
23 atrial standstill 1 9.7 DSC2 DSP JUP
24 arrhythmogenic right ventricular cardiomyopathy 9.7 DSC2 DSP JUP
25 cardiomyopathy, dilated, with woolly hair and keratoderma 9.6 DSC2 DSP JUP PKP1
26 dilated cardiomyopathy 9.6 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 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 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 NG_023337.1: g.41814A> T single nucleotide variant Pathogenic GRCh38 Chromosome 1, 201320265: 201320265
5 PKP1 NG_023337.1: g.41814A> T single nucleotide variant Pathogenic GRCh37 Chromosome 1, 201289393: 201289393
6 DSP NM_004415.3(DSP): c.1dupA (p.Met1Asnfs) duplication Benign rs17133512 GRCh37 Chromosome 6, 7542149: 7542149
7 DSP NM_004415.3(DSP): c.1dupA (p.Met1Asnfs) duplication Benign rs17133512 GRCh38 Chromosome 6, 7541916: 7541916
8 DSP NM_004415.3(DSP): c.105G> A (p.Gly35=) single nucleotide variant Benign/Likely benign rs77445784 GRCh37 Chromosome 6, 7542253: 7542253
9 DSP NM_004415.3(DSP): c.105G> A (p.Gly35=) single nucleotide variant Benign/Likely benign rs77445784 GRCh38 Chromosome 6, 7542020: 7542020
10 DSP NM_004415.3(DSP): c.1903+7T> C single nucleotide variant Benign/Likely benign rs28763962 GRCh37 Chromosome 6, 7571824: 7571824
11 DSP NM_004415.3(DSP): c.1903+7T> C single nucleotide variant Benign/Likely benign rs28763962 GRCh38 Chromosome 6, 7571591: 7571591
12 DSP NM_004415.3(DSP): c.2815G> A (p.Gly939Ser) single nucleotide variant Benign/Likely benign rs80325569 GRCh37 Chromosome 6, 7577213: 7577213
13 DSP NM_004415.3(DSP): c.2815G> A (p.Gly939Ser) single nucleotide variant Benign/Likely benign rs80325569 GRCh38 Chromosome 6, 7576980: 7576980
14 DSP NM_004415.3(DSP): c.4773G> A (p.Arg1591=) single nucleotide variant Benign/Likely benign rs28763968 GRCh37 Chromosome 6, 7581196: 7581196
15 DSP NM_004415.3(DSP): c.4773G> A (p.Arg1591=) single nucleotide variant Benign/Likely benign rs28763968 GRCh38 Chromosome 6, 7580963: 7580963
16 DSP NM_004415.3(DSP): c.8301C> G (p.Thr2767=) single nucleotide variant Benign/Likely benign rs145362059 GRCh37 Chromosome 6, 7585796: 7585796
17 DSP NM_004415.3(DSP): c.8301C> G (p.Thr2767=) single nucleotide variant Benign/Likely benign rs145362059 GRCh38 Chromosome 6, 7585563: 7585563
18 DSP NM_004415.3(DSP): c.913A> T (p.Ile305Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs17604693 GRCh37 Chromosome 6, 7565727: 7565727
19 DSP NM_004415.3(DSP): c.913A> T (p.Ile305Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs17604693 GRCh38 Chromosome 6, 7565494: 7565494
20 DSP NM_004415.3(DSP): c.*9T> A single nucleotide variant Benign/Likely benign rs11558732 GRCh37 Chromosome 6, 7586120: 7586120
21 DSP NM_004415.3(DSP): c.*9T> A single nucleotide variant Benign/Likely benign rs11558732 GRCh38 Chromosome 6, 7585887: 7585887
22 DSP NM_004415.3(DSP): c.126T> C (p.Tyr42=) single nucleotide variant Benign rs36087964 GRCh37 Chromosome 6, 7542274: 7542274
23 DSP NM_004415.3(DSP): c.126T> C (p.Tyr42=) single nucleotide variant Benign rs36087964 GRCh38 Chromosome 6, 7542041: 7542041
24 DSP NM_004415.3(DSP): c.12C> G (p.Asn4Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs368802003 GRCh37 Chromosome 6, 7542160: 7542160
25 DSP NM_004415.3(DSP): c.12C> G (p.Asn4Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs368802003 GRCh38 Chromosome 6, 7541927: 7541927
26 DSP NM_004415.3(DSP): c.1481A> T (p.Tyr494Phe) single nucleotide variant Benign/Likely benign rs28763961 GRCh37 Chromosome 6, 7569480: 7569480
27 DSP NM_004415.3(DSP): c.1481A> T (p.Tyr494Phe) single nucleotide variant Benign/Likely benign rs28763961 GRCh38 Chromosome 6, 7569247: 7569247
28 DSP NM_004415.3(DSP): c.1488G> A (p.Thr496=) single nucleotide variant Benign/Likely benign rs35820473 GRCh37 Chromosome 6, 7569487: 7569487
29 DSP NM_004415.3(DSP): c.1488G> A (p.Thr496=) single nucleotide variant Benign/Likely benign rs35820473 GRCh38 Chromosome 6, 7569254: 7569254
30 DSP NM_004415.3(DSP): c.1778A> G (p.Asn593Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs34239595 GRCh37 Chromosome 6, 7571692: 7571692
31 DSP NM_004415.3(DSP): c.1778A> G (p.Asn593Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs34239595 GRCh38 Chromosome 6, 7571459: 7571459
32 DSP NM_004415.3(DSP): c.2346C> T (p.Asp782=) single nucleotide variant Benign/Likely benign rs139071827 GRCh37 Chromosome 6, 7574938: 7574938
33 DSP NM_004415.3(DSP): c.2346C> T (p.Asp782=) single nucleotide variant Benign/Likely benign rs139071827 GRCh38 Chromosome 6, 7574705: 7574705
34 DSP NM_004415.3(DSP): c.2596C> T (p.Arg866Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142429411 GRCh37 Chromosome 6, 7575687: 7575687
35 DSP NM_004415.3(DSP): c.2596C> T (p.Arg866Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142429411 GRCh38 Chromosome 6, 7575454: 7575454
36 DSP NM_004415.3(DSP): c.2631G> A (p.Arg877=) single nucleotide variant Benign rs1016835 GRCh37 Chromosome 6, 7576527: 7576527
37 DSP NM_004415.3(DSP): c.2631G> A (p.Arg877=) single nucleotide variant Benign rs1016835 GRCh38 Chromosome 6, 7576294: 7576294
38 DSP NM_004415.3(DSP): c.2673T> C (p.Tyr891=) single nucleotide variant Benign/Likely benign rs146407262 GRCh37 Chromosome 6, 7576569: 7576569
39 DSP NM_004415.3(DSP): c.2673T> C (p.Tyr891=) single nucleotide variant Benign/Likely benign rs146407262 GRCh38 Chromosome 6, 7576336: 7576336
40 DSP NM_004415.3(DSP): c.273+10C> T single nucleotide variant Benign/Likely benign rs56148603 GRCh37 Chromosome 6, 7556063: 7556063
41 DSP NM_004415.3(DSP): c.273+10C> T single nucleotide variant Benign/Likely benign rs56148603 GRCh38 Chromosome 6, 7555830: 7555830
42 DSP NM_004415.3(DSP): c.2773C> T (p.Arg925Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs145933612 GRCh37 Chromosome 6, 7576669: 7576669
43 DSP NM_004415.3(DSP): c.2773C> T (p.Arg925Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs145933612 GRCh38 Chromosome 6, 7576436: 7576436
44 DSP NM_004415.3(DSP): c.2862C> T (p.Cys954=) single nucleotide variant Benign rs2064217 GRCh37 Chromosome 6, 7577260: 7577260
45 DSP NM_004415.3(DSP): c.2862C> T (p.Cys954=) single nucleotide variant Benign rs2064217 GRCh38 Chromosome 6, 7577027: 7577027
46 DSP NM_004415.3(DSP): c.3510G> A (p.Glu1170=) single nucleotide variant Benign/Likely benign rs28763964 GRCh37 Chromosome 6, 7579933: 7579933
47 DSP NM_004415.3(DSP): c.3510G> A (p.Glu1170=) single nucleotide variant Benign/Likely benign rs28763964 GRCh38 Chromosome 6, 7579700: 7579700
48 DSP NM_004415.3(DSP): c.3963G> A (p.Gln1321=) single nucleotide variant Benign/Likely benign rs61731476 GRCh37 Chromosome 6, 7580386: 7580386
49 DSP NM_004415.3(DSP): c.3963G> A (p.Gln1321=) single nucleotide variant Benign/Likely benign rs61731476 GRCh38 Chromosome 6, 7580153: 7580153
50 DSP NM_004415.3(DSP): c.4065T> C (p.Tyr1355=) single nucleotide variant Benign/Likely benign rs148478829 GRCh37 Chromosome 6, 7580488: 7580488

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

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