MCID: CRD180
MIFTS: 41

Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Oral diseases, Cardiovascular diseases

Aliases & Classifications for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

MalaCards integrated aliases for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma:

Name: Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma 57 75
Carvajal Syndrome 57 12 53 59 75 37 55
Palmoplantar Keratoderma with Left Ventricular Cardiomyopathy and Woolly Hair 57 12 53 75
Dilated Cardiomyopathy with Woolly Hair and Keratoderma 12 29 13 6
Cardiomyopathy Dilated with Woolly Hair and Keratoderma 53 40 73
Dcwhk 57 12 75
Woolly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome 53 59
Wooly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome 53 59
Woolly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome 53 59
Wooly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome 53 59
Keratoderma with Woolly Hair Type Ii 53 59
Kwwh Type Ii 53 59
Epidermolytic Palmoplantar Keratoderma Woolly Hair and Dilated Cardiomyopathy 53
Wooly Hair - Palmoplantar Keratoderma - Dilated Cardiomyopathy 53

Characteristics:

Orphanet epidemiological data:

59
carvajal syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
risk of death due to cardiac dysfunction


HPO:

32
cardiomyopathy, dilated, with woolly hair and keratoderma:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 605676
Disease Ontology 12 DOID:0090128
Orphanet 59 ORPHA65282
UMLS via Orphanet 74 C1854063
MedGen 42 C1854063
MeSH 44 D002311
KEGG 37 H02094
UMLS 73 C1854063

Summaries for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 65282Disease definitionWoolly hair-palmoplantar keratoderma-dilated cardiomyopathysyndrome is characterized by woolly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle.EpidemiologyOnly a few cases have been reported, all involving patients from Ecuador, India or Turkey.Clinical descriptionThe woolly hair is present at birth and the palmoplantar keratoderma appears during the first year of life. The cardiac anomaly presents during childhood and is marked by dilation of the left ventricle accompanied by alterations in muscle contractility. The dilated cardiomyopathy may lead to life-threatening congestive heart failure.EtiologyThe syndrome is transmitted as an autosomal recessivetrait and is caused by mutations in the DSP gene (6p24) encoding desmoplakin, a protein involved in cell adhesion.Differential diagnosisThe syndrome is similar to Naxos disease (see this term).Visit the Orphanet disease page for more resources.

MalaCards based summary : Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma, also known as carvajal syndrome, is related to naxos disease and woolly hair syndrome, and has symptoms including clubbing of nail An important gene associated with Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma is DSP (Desmoplakin), and among its related pathways/superpathways are Keratinization and Arrhythmogenic right ventricular cardiomyopathy (ARVC). Affiliated tissues include heart and skin, and related phenotypes are congestive heart failure and dilated cardiomyopathy

Disease Ontology : 12 An autosomal recessive disease characterized by autosomal recessive inheritance of dilated cardiomyopathy, woolly hair, and keratoderma that has material basis in homozygous mutation in the DSP gene on chromosome 6p24.

UniProtKB/Swiss-Prot : 75 Cardiomyopathy, dilated, with woolly hair and keratoderma: An autosomal recessive cardiocutaneous syndrome characterized by a generalized striate keratoderma particularly affecting the palmoplantar epidermis, woolly hair, and dilated left ventricular cardiomyopathy.

Description from OMIM: 605676

Related Diseases for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

Diseases related to Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 naxos disease 31.8 DSP JUP
2 woolly hair syndrome 31.6 DSP LOC101928076
3 palmoplantar keratosis 29.6 DSP JUP
4 arrhythmogenic right ventricular cardiomyopathy 28.6 DSP JUP
5 grover's disease 10.0 DSP JUP
6 dilated cardiomyopathy 10.0
7 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.0 DSP JUP
8 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.0 DSP JUP
9 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 9.9 DSP JUP
10 palmoplantar keratoderma and woolly hair 9.9 DSP JUP
11 arrhythmogenic right ventricular dysplasia, familial, 9 9.9 DSP JUP
12 arrhythmogenic right ventricular dysplasia, familial, 8 9.9 DSP JUP
13 benign chronic pemphigus 9.9 DSP JUP
14 darier-white disease 9.8 DSP JUP
15 arrhythmogenic right ventricular dysplasia, familial, 1 9.8 DSP JUP
16 palmoplantar keratoderma, nonepidermolytic 9.8
17 tooth agenesis 9.8
18 keratosis 9.8
19 unna-thost palmoplantar keratoderma 9.8
20 keratoderma with woolly hair 9.8
21 intrinsic cardiomyopathy 9.8 DSP JUP
22 pemphigus vulgaris 9.7 DSP JUP
23 pemphigus 9.7 DSP JUP
24 skin fragility-woolly hair syndrome 9.6 DSP LOC101928076
25 atrial standstill 1 9.6 DSP JUP
26 left ventricular noncompaction 9.5 DSP JUP
27 epidermolysis bullosa, lethal acantholytic 9.0 DSP JUP LOC101928076
28 ectodermal dysplasia/skin fragility syndrome 9.0 DSP JUP LOC101928076

Graphical network of the top 20 diseases related to Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma:



Diseases related to Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

Symptoms & Phenotypes for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin Histology:
hyperkeratosis
papillomatosis
dyskeratosis
epidermal edema
epidermolytic hyperkeratosis
more
Skin Nails Hair Hair:
woolly hair

Skin Nails Hair Nails:
clubbed nails

Skin Nails Hair Skin:
palmoplantar keratoderma
striated keratoderma of palms
focal keratoderma of soles
striated lichenoid keratoses in major flexural folds
follicular keratosis on elbows and knees
more
Cardiovascular Heart:
cardiomyocyte hypertrophy
heart failure
cardiomyopathy, dilated
decreased contractility
low voltage on electrocardiogram
more

Clinical features from OMIM:

605676

Human phenotypes related to Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
2 dilated cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001644
3 woolly hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002224
4 patchy palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0005588
5 palmoplantar keratoderma 32 HP:0000982
6 ventricular tachycardia 32 occasional (7.5%) HP:0004756
7 congenital bullous ichthyosiform erythroderma 32 HP:0007475
8 reduced number of teeth 32 HP:0009804

UMLS symptoms related to Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma:


clubbing of nail

Drugs & Therapeutics for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

Genetic Tests for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

Genetic tests related to Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy with Woolly Hair and Keratoderma 29 DSP

Anatomical Context for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

MalaCards organs/tissues related to Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma:

41
Heart, Skin

Publications for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

Articles related to Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma:

# Title Authors Year
1
A novel heterozygous mutation in desmoplakin gene in a Lebanese patient with Carvajal syndrome and tooth agenesis. ( 26833927 )
2016
2
Different clinical presentations of Naxos disease and Carvajal syndrome: Case series from a single tertiary center and review of the literature. ( 25430408 )
2014
3
What is your diagnosis? Diffuse nonepidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy (Naxos-Carvajal syndrome). ( 20486455 )
2010
4
Dilated cardiomyopathy and sudden death in a teenager with palmar-plantar keratosis (occult Carvajal syndrome). ( 18313016 )
2008
5
Biventricular involvement in a Turkish boy with palmoplantar hyperkeratosis and curly hair, an unusual presentation of Naxos-Carvajal syndrome. ( 17125858 )
2007
6
Images in cardiovascular medicine. Magnetic resonance imaging characteristics in Carvajal syndrome (variant of Naxos disease). ( 17998464 )
2007
7
Woolly hair, palmoplantar keratoderma and arrhythmogenic dilated cardiomyopathy in a 7-year-old Turkish girl: Carvajal syndrome. ( 16494708 )
2006
8
Structural and molecular pathology of the heart in Carvajal syndrome. ( 14761782 )
2004
9
Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. ( 15210133 )
2004

Variations for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

ClinVar genetic disease variations for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma:

6
(show top 50) (show all 586)
# Gene Variation Type Significance SNP ID Assembly Location
1 DSP NM_004415.3(DSP): c.7623delG (p.Lys2542Serfs) deletion Pathogenic rs397514039 GRCh37 Chromosome 6, 7585118: 7585118
2 DSP NM_004415.3(DSP): c.7623delG (p.Lys2542Serfs) deletion Pathogenic rs397514039 GRCh38 Chromosome 6, 7584885: 7584885
3 DSP NM_004415.3(DSP): c.3799C> T (p.Arg1267Ter) single nucleotide variant Likely pathogenic rs121912997 GRCh37 Chromosome 6, 7580222: 7580222
4 DSP NM_004415.3(DSP): c.3799C> T (p.Arg1267Ter) single nucleotide variant Likely pathogenic rs121912997 GRCh38 Chromosome 6, 7579989: 7579989
5 DSP NM_004415.3(DSP): c.4531C> T (p.Gln1511Ter) single nucleotide variant Pathogenic rs397516940 GRCh37 Chromosome 6, 7580954: 7580954
6 DSP NM_004415.3(DSP): c.4531C> T (p.Gln1511Ter) single nucleotide variant Pathogenic rs397516940 GRCh38 Chromosome 6, 7580721: 7580721
7 DSP NM_004415.3(DSP): c.699G> A (p.Trp233Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516955 GRCh37 Chromosome 6, 7562986: 7562986
8 DSP NM_004415.3(DSP): c.699G> A (p.Trp233Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516955 GRCh38 Chromosome 6, 7562753: 7562753
9 DSP NM_004415.3(DSP): c.7780delT (p.Ser2594Profs) deletion Pathogenic rs397514045 GRCh37 Chromosome 6, 7585275: 7585275
10 DSP NM_004415.3(DSP): c.7780delT (p.Ser2594Profs) deletion Pathogenic rs397514045 GRCh38 Chromosome 6, 7585042: 7585042
11 DSP NM_004415.3(DSP): c.1696G> A (p.Ala566Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs148147581 GRCh37 Chromosome 6, 7570791: 7570791
12 DSP NM_004415.3(DSP): c.1696G> A (p.Ala566Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs148147581 GRCh38 Chromosome 6, 7570558: 7570558
13 DSP NM_004415.3(DSP): c.5324G> T (p.Arg1775Ile) single nucleotide variant Uncertain significance rs34738426 GRCh37 Chromosome 6, 7581747: 7581747
14 DSP NM_004415.3(DSP): c.5324G> T (p.Arg1775Ile) single nucleotide variant Uncertain significance rs34738426 GRCh38 Chromosome 6, 7581514: 7581514
15 DSP NM_004415.3(DSP): c.5513G> A (p.Arg1838His) single nucleotide variant Conflicting interpretations of pathogenicity rs377715841 GRCh37 Chromosome 6, 7583008: 7583008
16 DSP NM_004415.3(DSP): c.5513G> A (p.Arg1838His) single nucleotide variant Conflicting interpretations of pathogenicity rs377715841 GRCh38 Chromosome 6, 7582775: 7582775
17 DSP NM_001008844.2(DSP): c.5326G> C (p.Gly1776Arg) single nucleotide variant Uncertain significance rs376923069 GRCh37 Chromosome 6, 7584618: 7584618
18 DSP NM_001008844.2(DSP): c.5326G> C (p.Gly1776Arg) single nucleotide variant Uncertain significance rs376923069 GRCh38 Chromosome 6, 7584385: 7584385
19 DSP NM_004415.3(DSP): c.2091A= (p.Gly697=) single nucleotide variant Benign rs2076304 GRCh37 Chromosome 6, 7572262: 7572262
20 DSP NM_004415.3(DSP): c.2091A= (p.Gly697=) single nucleotide variant Benign rs2076304 GRCh38 Chromosome 6, 7572029: 7572029
21 DSP NM_004415.3(DSP): c.2723G> A (p.Arg908His) single nucleotide variant Conflicting interpretations of pathogenicity rs142494121 GRCh37 Chromosome 6, 7576619: 7576619
22 DSP NM_004415.3(DSP): c.2723G> A (p.Arg908His) single nucleotide variant Conflicting interpretations of pathogenicity rs142494121 GRCh38 Chromosome 6, 7576386: 7576386
23 DSP NM_004415.3(DSP): c.3507C> T (p.Tyr1169=) single nucleotide variant Likely benign rs148894066 GRCh37 Chromosome 6, 7579930: 7579930
24 DSP NM_004415.3(DSP): c.3507C> T (p.Tyr1169=) single nucleotide variant Likely benign rs148894066 GRCh38 Chromosome 6, 7579697: 7579697
25 DSP NM_004415.3(DSP): c.3862A> C (p.Lys1288Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138907450 GRCh37 Chromosome 6, 7580285: 7580285
26 DSP NM_004415.3(DSP): c.3862A> C (p.Lys1288Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138907450 GRCh38 Chromosome 6, 7580052: 7580052
27 DSP NM_004415.3(DSP): c.4490G> A (p.Arg1497Gln) single nucleotide variant Uncertain significance rs727505037 GRCh37 Chromosome 6, 7580913: 7580913
28 DSP NM_004415.3(DSP): c.4490G> A (p.Arg1497Gln) single nucleotide variant Uncertain significance rs727505037 GRCh38 Chromosome 6, 7580680: 7580680
29 DSP NM_004415.3(DSP): c.1743C> T (p.Ala581=) single nucleotide variant Conflicting interpretations of pathogenicity rs139095230 GRCh37 Chromosome 6, 7571657: 7571657
30 DSP NM_004415.3(DSP): c.1743C> T (p.Ala581=) single nucleotide variant Conflicting interpretations of pathogenicity rs139095230 GRCh38 Chromosome 6, 7571424: 7571424
31 DSP NM_004415.3(DSP): c.1920C> T (p.Ile640=) single nucleotide variant Benign/Likely benign rs74806300 GRCh37 Chromosome 6, 7572091: 7572091
32 DSP NM_004415.3(DSP): c.1920C> T (p.Ile640=) single nucleotide variant Benign/Likely benign rs74806300 GRCh38 Chromosome 6, 7571858: 7571858
33 DSP NM_004415.3(DSP): c.3650C> T (p.Thr1217Met) single nucleotide variant Conflicting interpretations of pathogenicity rs535202724 GRCh37 Chromosome 6, 7580073: 7580073
34 DSP NM_004415.3(DSP): c.3650C> T (p.Thr1217Met) single nucleotide variant Conflicting interpretations of pathogenicity rs535202724 GRCh38 Chromosome 6, 7579840: 7579840
35 DSP NM_004415.3(DSP): c.3923G> A (p.Arg1308Gln) single nucleotide variant Benign/Likely benign rs184154918 GRCh37 Chromosome 6, 7580346: 7580346
36 DSP NM_004415.3(DSP): c.3923G> A (p.Arg1308Gln) single nucleotide variant Benign/Likely benign rs184154918 GRCh38 Chromosome 6, 7580113: 7580113
37 DSP NM_004415.3(DSP): c.4105G> A (p.Glu1369Lys) single nucleotide variant Uncertain significance rs141805096 GRCh37 Chromosome 6, 7580528: 7580528
38 DSP NM_004415.3(DSP): c.4105G> A (p.Glu1369Lys) single nucleotide variant Uncertain significance rs141805096 GRCh38 Chromosome 6, 7580295: 7580295
39 DSP NM_004415.3(DSP): c.5178C> A (p.Asn1726Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147415451 GRCh37 Chromosome 6, 7581601: 7581601
40 DSP NM_004415.3(DSP): c.5178C> A (p.Asn1726Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147415451 GRCh38 Chromosome 6, 7581368: 7581368
41 DSP NM_004415.3(DSP): c.6351T> C (p.Asp2117=) single nucleotide variant Benign/Likely benign rs148743859 GRCh37 Chromosome 6, 7583846: 7583846
42 DSP NM_004415.3(DSP): c.6351T> C (p.Asp2117=) single nucleotide variant Benign/Likely benign rs148743859 GRCh38 Chromosome 6, 7583613: 7583613
43 DSP NM_004415.3(DSP): c.5304G> C (p.Gly1768=) single nucleotide variant Benign/Likely benign rs530612211 GRCh37 Chromosome 6, 7581727: 7581727
44 DSP NM_004415.3(DSP): c.5304G> C (p.Gly1768=) single nucleotide variant Benign/Likely benign rs530612211 GRCh38 Chromosome 6, 7581494: 7581494
45 DSP NM_004415.3(DSP): c.5523A> C (p.Ser1841=) single nucleotide variant Conflicting interpretations of pathogenicity rs730882116 GRCh37 Chromosome 6, 7583018: 7583018
46 DSP NM_004415.3(DSP): c.5523A> C (p.Ser1841=) single nucleotide variant Conflicting interpretations of pathogenicity rs730882116 GRCh38 Chromosome 6, 7582785: 7582785
47 DSP NM_004415.3(DSP): c.5554C> T (p.Arg1852Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs550818559 GRCh37 Chromosome 6, 7583049: 7583049
48 DSP NM_004415.3(DSP): c.5554C> T (p.Arg1852Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs550818559 GRCh38 Chromosome 6, 7582816: 7582816
49 DSP NM_004415.3(DSP): c.7916G> A (p.Arg2639Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs116888866 GRCh37 Chromosome 6, 7585411: 7585411
50 DSP NM_004415.3(DSP): c.7916G> A (p.Arg2639Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs116888866 GRCh38 Chromosome 6, 7585178: 7585178

Expression for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma.

Pathways for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

Pathways related to Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.78 DSP JUP
2
Show member pathways
11.66 DSP JUP
3 11.25 DSP JUP
4 10.7 DSP JUP
5 10.13 DSP JUP

GO Terms for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

Cellular components related to Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 9.37 DSP JUP
2 cell-cell junction GO:0005911 9.32 DSP JUP
3 cornified envelope GO:0001533 9.26 DSP JUP
4 intercalated disc GO:0014704 9.16 DSP JUP
5 desmosome GO:0030057 8.96 DSP JUP
6 fascia adherens GO:0005916 8.62 DSP JUP

Biological processes related to Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.43 DSP JUP
2 cell-cell adhesion GO:0098609 9.4 DSP JUP
3 cornification GO:0070268 9.37 DSP JUP
4 skin development GO:0043588 9.32 DSP JUP
5 adherens junction organization GO:0034332 9.26 DSP JUP
6 regulation of heart rate by cardiac conduction GO:0086091 9.16 DSP JUP
7 regulation of ventricular cardiac muscle cell action potential GO:0098911 8.96 DSP JUP
8 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 8.62 DSP JUP

Molecular functions related to Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.16 DSP JUP
2 cell adhesion molecule binding GO:0050839 8.96 DSP JUP
3 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.62 DSP JUP

Sources for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

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
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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