ARVD8
MCID: ARR050
MIFTS: 40

Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 (ARVD8)

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

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

MalaCards integrated aliases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 58 76 74
Arrhythmogenic Right Ventricular Dysplasia 8 58 12 13 15
Arrhythmogenic Right Ventricular Cardiomyopathy 8 58 12 76
Arvd8 58 12 76
Arvc8 58 12 76
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 8 30 6
Arrhythmogenic Right Ventricular Cardiomyopathy 8; Arvc8 58
Familial Arrhythmogenic Right Ventricular Dysplasia 8 12
Dysplasia, Ventricular, Right, Arrhythmogenic, Type 8 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

33
arrhythmogenic right ventricular dysplasia, familial, 8:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110076
OMIM 58 607450
MeSH 45 D019571
ICD10 34 I42.8
MedGen 43 C1843896
UMLS 74 C1843896

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

OMIM : 58 ARVD8 is characterized by progressive degeneration of the right ventricular myocardium. Patients may experience life-threatening cardiac arrhythmias and show depolarization, conduction, and repolarization defects on electrocardiography (Rampazzo et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of ARVD, see 107970. (607450)

MalaCards based summary : Arrhythmogenic Right Ventricular Dysplasia, Familial, 8, also known as arrhythmogenic right ventricular dysplasia 8, is related to grover's disease and epidermolysis bullosa, lethal acantholytic. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 is DSP (Desmoplakin), and among its related pathways/superpathways are Keratinization and Adhesion. Affiliated tissues include heart and skin, and related phenotypes are sudden cardiac death and congestive heart failure

Disease Ontology : 12 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the gene encoding desmoplakin (DSP) on chromosome 6p24.

UniProtKB/Swiss-Prot : 76 Arrhythmogenic right ventricular dysplasia, familial, 8: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Diseases in the Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 family:

Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 grover's disease 10.1 DSP JUP
2 epidermolysis bullosa, lethal acantholytic 10.1 DSP JUP
3 palmoplantar keratoderma and woolly hair 10.1 DSP JUP
4 ectodermal dysplasia/skin fragility syndrome 10.1 DSP JUP
5 benign chronic pemphigus 10.1 DSP JUP
6 pemphigus 10.1 DSP JUP
7 darier-white disease 10.0 DSP JUP
8 left bundle branch hemiblock 10.0 JUP PKP2
9 cardiac conduction defect 10.0 DSP RYR2
10 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.0 DSP RYR2
11 palmoplantar keratosis 10.0 DSP JUP
12 ventricular fibrillation, paroxysmal familial, 1 9.9 DSP RYR2
13 pemphigus vulgaris 9.9 DSP JUP
14 cardiac arrhythmia 9.9 JUP RYR2
15 arrhythmogenic right ventricular dysplasia, familial, 4 9.9 PKP2 TGFB3
16 naxos disease 9.8 DSP JUP PKP2
17 atrial standstill 1 9.8 DSP JUP PKP2
18 catecholaminergic polymorphic ventricular tachycardia 9.8 DSP RYR2
19 long qt syndrome 1 9.8 DSP PKP2 RYR2
20 brugada syndrome 9.8 JUP PKP2 TMEM43
21 cardiac arrest 9.7 DSP RYR2
22 arrhythmogenic right ventricular dysplasia, familial, 2 9.5 JUP RYR2 TGFB3
23 cardiomyopathy, dilated, with woolly hair and keratoderma 9.4 DSP JUP PKP2 TGFB3
24 arrhythmogenic right ventricular dysplasia, familial, 1 9.3 DSP JUP RYR2 TGFB3
25 heart disease 9.3 DSP PKP2 RYR2 TGFB3
26 intrinsic cardiomyopathy 9.2 DSP JUP PKP2 RYR2 TMEM43
27 dilated cardiomyopathy 9.2 DSP JUP PKP2 RYR2 TMEM43
28 arrhythmogenic right ventricular dysplasia, familial, 9 9.0 DSP JUP PKP2 RYR2 TGFB3
29 left ventricular noncompaction 9.0 DSP JUP PKP2 RYR2 TGFB3
30 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 8.7 DSP JUP PKP2 RYR2 TGFB3 TMEM43
31 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 8.7 DSP JUP PKP2 RYR2 TGFB3 TMEM43
32 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 8.7 DSP JUP PKP2 RYR2 TGFB3 TMEM43
33 arrhythmogenic right ventricular cardiomyopathy 8.7 DSP JUP PKP2 RYR2 TGFB3 TMEM43

Graphical network of the top 20 diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:



Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 33 HP:0001645
2 congestive heart failure 33 HP:0001635
3 ventricular tachycardia 33 HP:0004756
4 ventricular extrasystoles 33 HP:0006682
5 ventricular fibrillation 33 HP:0001663
6 right ventricular cardiomyopathy 33 HP:0011663

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
sudden cardiac death
cardiomyopathy, right ventricular
heart failure
ventricular arrhythmia (pvc, vt, and vf)

Clinical features from OMIM:

607450

MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.55 DSP JUP PKP2 RYR2 TGFB3
2 embryo MP:0005380 9.26 DSP JUP RYR2 TGFB3
3 muscle MP:0005369 8.92 DSP JUP PKP2 RYR2

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Search Clinical Trials , NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:

# Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Cardiomyopathy, Type 8 30 DSP

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:

42
Heart, Skin

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Articles related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:

# Title Authors Year
1
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
2
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
3
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
4
Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy. ( 20864495 )
2010
5
Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. ( 16917092 )
2006
6
Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. ( 12373648 )
2002
7
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. ( 10594734 )
1999

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

UniProtKB/Swiss-Prot genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:

76
# Symbol AA change Variation ID SNP ID
1 DSP p.Arg1255Lys VAR_023814 rs777407386
2 DSP p.Ile445Val VAR_065693 rs934142779

ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:

6 (show top 50) (show all 1017)
# Gene Variation Type Significance SNP ID Assembly Location
1 DSP NM_004415.3(DSP): c.897C> G (p.Ser299Arg) single nucleotide variant Pathogenic rs121912992 GRCh37 Chromosome 6, 7565711: 7565711
2 DSP NM_004415.3(DSP): c.897C> G (p.Ser299Arg) single nucleotide variant Pathogenic rs121912992 GRCh38 Chromosome 6, 7565478: 7565478
3 DSP NM_004415.3(DSP): c.6091_6092delTT (p.Leu2031Glyfs) deletion Uncertain significance rs397514040 GRCh37 Chromosome 6, 7583586: 7583587
4 DSP NM_004415.3(DSP): c.6091_6092delTT (p.Leu2031Glyfs) deletion Uncertain significance rs397514040 GRCh38 Chromosome 6, 7583353: 7583354
5 DSP NM_001008844.2(DSP): c.88G> A (p.Val30Met) single nucleotide variant Conflicting interpretations of pathogenicity rs121912998 GRCh37 Chromosome 6, 7542236: 7542236
6 DSP NM_001008844.2(DSP): c.88G> A (p.Val30Met) single nucleotide variant Conflicting interpretations of pathogenicity rs121912998 GRCh38 Chromosome 6, 7542003: 7542003
7 DSP NM_004415.3(DSP): c.8501G> A (p.Arg2834His) single nucleotide variant Pathogenic rs121912999 GRCh37 Chromosome 6, 7585996: 7585996
8 DSP NM_004415.3(DSP): c.8501G> A (p.Arg2834His) single nucleotide variant Pathogenic rs121912999 GRCh38 Chromosome 6, 7585763: 7585763
9 DSP NM_004415.2(DSP): c.105G> A (p.Gly35=) single nucleotide variant Benign/Likely benign rs77445784 GRCh37 Chromosome 6, 7542253: 7542253
10 DSP NM_004415.2(DSP): c.105G> A (p.Gly35=) single nucleotide variant Benign/Likely benign rs77445784 GRCh38 Chromosome 6, 7542020: 7542020
11 DSP NM_004415.3(DSP): c.1903+7T> C single nucleotide variant Benign/Likely benign rs28763962 GRCh37 Chromosome 6, 7571824: 7571824
12 DSP NM_004415.3(DSP): c.1903+7T> C single nucleotide variant Benign/Likely benign rs28763962 GRCh38 Chromosome 6, 7571591: 7571591
13 DSP NM_004415.2(DSP): c.2815G> A (p.Gly939Ser) single nucleotide variant Benign/Likely benign rs80325569 GRCh37 Chromosome 6, 7577213: 7577213
14 DSP NM_004415.2(DSP): c.2815G> A (p.Gly939Ser) single nucleotide variant Benign/Likely benign rs80325569 GRCh38 Chromosome 6, 7576980: 7576980
15 DSP NM_004415.2(DSP): c.4773G> A (p.Arg1591=) single nucleotide variant Benign/Likely benign rs28763968 GRCh37 Chromosome 6, 7581196: 7581196
16 DSP NM_004415.2(DSP): c.4773G> A (p.Arg1591=) single nucleotide variant Benign/Likely benign rs28763968 GRCh38 Chromosome 6, 7580963: 7580963
17 DSP NM_004415.3(DSP): c.5555G> A (p.Arg1852His) single nucleotide variant Conflicting interpretations of pathogenicity rs193922669 GRCh37 Chromosome 6, 7583050: 7583050
18 DSP NM_004415.3(DSP): c.5555G> A (p.Arg1852His) single nucleotide variant Conflicting interpretations of pathogenicity rs193922669 GRCh38 Chromosome 6, 7582817: 7582817
19 DSP NM_004415.2(DSP): c.8301C> G (p.Thr2767=) single nucleotide variant Benign/Likely benign rs145362059 GRCh37 Chromosome 6, 7585796: 7585796
20 DSP NM_004415.2(DSP): c.8301C> G (p.Thr2767=) single nucleotide variant Benign/Likely benign rs145362059 GRCh38 Chromosome 6, 7585563: 7585563
21 DSP NM_004415.2(DSP): c.913A> T (p.Ile305Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs17604693 GRCh37 Chromosome 6, 7565727: 7565727
22 DSP NM_004415.2(DSP): c.913A> T (p.Ile305Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs17604693 GRCh38 Chromosome 6, 7565494: 7565494
23 DSP NM_004415.2(DSP): c.*9T> A single nucleotide variant Benign/Likely benign rs11558732 GRCh37 Chromosome 6, 7586120: 7586120
24 DSP NM_004415.2(DSP): c.*9T> A single nucleotide variant Benign/Likely benign rs11558732 GRCh38 Chromosome 6, 7585887: 7585887
25 DSP NM_004415.3(DSP): c.1112A> C (p.His371Pro) single nucleotide variant Uncertain significance rs397516912 GRCh37 Chromosome 6, 7567654: 7567654
26 DSP NM_004415.3(DSP): c.1112A> C (p.His371Pro) single nucleotide variant Uncertain significance rs397516912 GRCh38 Chromosome 6, 7567421: 7567421
27 DSP NM_004415.2(DSP): c.1266+6G> T single nucleotide variant Benign/Likely benign rs73375345 GRCh37 Chromosome 6, 7568145: 7568145
28 DSP NM_004415.2(DSP): c.1266+6G> T single nucleotide variant Benign/Likely benign rs73375345 GRCh38 Chromosome 6, 7567912: 7567912
29 DSP NM_004415.2(DSP): c.12C> G (p.Asn4Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs368802003 GRCh37 Chromosome 6, 7542160: 7542160
30 DSP NM_004415.2(DSP): c.12C> G (p.Asn4Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs368802003 GRCh38 Chromosome 6, 7541927: 7541927
31 DSP NM_004415.2(DSP): c.1481A> T (p.Tyr494Phe) single nucleotide variant Benign/Likely benign rs28763961 GRCh37 Chromosome 6, 7569480: 7569480
32 DSP NM_004415.2(DSP): c.1481A> T (p.Tyr494Phe) single nucleotide variant Benign/Likely benign rs28763961 GRCh38 Chromosome 6, 7569247: 7569247
33 DSP NM_004415.2(DSP): c.1488G> A (p.Thr496=) single nucleotide variant Benign/Likely benign rs35820473 GRCh37 Chromosome 6, 7569487: 7569487
34 DSP NM_004415.2(DSP): c.1488G> A (p.Thr496=) single nucleotide variant Benign/Likely benign rs35820473 GRCh38 Chromosome 6, 7569254: 7569254
35 DSP NM_004415.3(DSP): c.157T> G (p.Ser53Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs397516918 GRCh37 Chromosome 6, 7542305: 7542305
36 DSP NM_004415.3(DSP): c.157T> G (p.Ser53Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs397516918 GRCh38 Chromosome 6, 7542072: 7542072
37 DSP NM_001008844.2(DSP): c.1778A> G (p.Asn593Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs34239595 GRCh37 Chromosome 6, 7571692: 7571692
38 DSP NM_001008844.2(DSP): c.1778A> G (p.Asn593Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs34239595 GRCh38 Chromosome 6, 7571459: 7571459
39 DSP NM_004415.3(DSP): c.1949A> G (p.Asn650Ser) single nucleotide variant Uncertain significance rs145650440 GRCh37 Chromosome 6, 7572120: 7572120
40 DSP NM_004415.3(DSP): c.1949A> G (p.Asn650Ser) single nucleotide variant Uncertain significance rs145650440 GRCh38 Chromosome 6, 7571887: 7571887
41 DSP NM_004415.3(DSP): c.2134G> A (p.Val712Met) single nucleotide variant Uncertain significance rs397516922 GRCh37 Chromosome 6, 7574322: 7574322
42 DSP NM_004415.3(DSP): c.2134G> A (p.Val712Met) single nucleotide variant Uncertain significance rs397516922 GRCh38 Chromosome 6, 7574089: 7574089
43 DSP NM_004415.2(DSP): c.2346C> T (p.Asp782=) single nucleotide variant Benign/Likely benign rs139071827 GRCh37 Chromosome 6, 7574938: 7574938
44 DSP NM_004415.2(DSP): c.2346C> T (p.Asp782=) single nucleotide variant Benign/Likely benign rs139071827 GRCh38 Chromosome 6, 7574705: 7574705
45 DSP NM_001008844.2(DSP): c.2422C> T (p.Arg808Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150339369 GRCh37 Chromosome 6, 7575014: 7575014
46 DSP NM_001008844.2(DSP): c.2422C> T (p.Arg808Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150339369 GRCh38 Chromosome 6, 7574781: 7574781
47 DSP NM_001008844.2(DSP): c.2422C> T (p.Arg808Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150339369 NCBI36 Chromosome 6, 7520013: 7520013
48 DSP NM_001008844.2(DSP): c.242G> A (p.Cys81Tyr) single nucleotide variant Uncertain significance rs140965835 GRCh37 Chromosome 6, 7556022: 7556022
49 DSP NM_001008844.2(DSP): c.242G> A (p.Cys81Tyr) single nucleotide variant Uncertain significance rs140965835 GRCh38 Chromosome 6, 7555789: 7555789
50 DSP NM_004415.3(DSP): c.2596C> T (p.Arg866Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142429411 GRCh37 Chromosome 6, 7575687: 7575687

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8.

Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Pathways related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.89 DSP JUP PKP2
2 11.46 DSP JUP
3
Show member pathways
11.36 DSP PKP2
4
Show member pathways
11.33 DSP JUP PKP2 RYR2
5 10.88 DSP JUP RYR2
6 10.66 DSP JUP

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Cellular components related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 9.54 DSP JUP PKP2
2 cell-cell junction GO:0005911 9.5 DSP JUP PKP2
3 Z disc GO:0030018 9.46 JUP RYR2
4 cell-cell adherens junction GO:0005913 9.43 JUP PKP2
5 adherens junction GO:0005912 9.4 JUP PKP2
6 cornified envelope GO:0001533 9.33 DSP JUP PKP2
7 fascia adherens GO:0005916 9.26 DSP JUP
8 intercalated disc GO:0014704 9.13 DSP JUP PKP2
9 desmosome GO:0030057 8.8 DSP JUP PKP2

Biological processes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.63 DSP JUP PKP2
2 cell-cell adhesion GO:0098609 9.54 DSP JUP PKP2
3 wound healing GO:0042060 9.51 DSP TGFB3
4 cornification GO:0070268 9.5 DSP JUP PKP2
5 skin development GO:0043588 9.49 DSP JUP
6 adherens junction organization GO:0034332 9.48 DSP JUP
7 ventricular cardiac muscle cell action potential GO:0086005 9.43 PKP2 RYR2
8 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.4 PKP2 RYR2
9 regulation of heart rate by cardiac conduction GO:0086091 9.33 DSP JUP PKP2
10 desmosome assembly GO:0002159 9.26 JUP PKP2
11 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.13 DSP JUP PKP2
12 regulation of ventricular cardiac muscle cell action potential GO:0098911 8.92 DSP JUP PKP2 RYR2

Molecular functions related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.37 PKP2 RYR2
2 cell adhesion molecule binding GO:0050839 9.32 DSP JUP
3 protein self-association GO:0043621 9.26 RYR2 TMEM43
4 protein kinase C binding GO:0005080 9.16 DSP PKP2
5 alpha-catenin binding GO:0045294 8.96 JUP PKP2
6 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.8 DSP JUP PKP2

Sources for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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