ARVD9
MCID: ARR023
MIFTS: 38

Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 (ARVD9)

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

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

MalaCards integrated aliases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 57 75 73
Arrhythmogenic Right Ventricular Dysplasia 9 57 12 13 15
Arrhythmogenic Right Ventricular Cardiomyopathy 9 57 12 75
Arvd9 57 12 75
Arvc9 57 12 75
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 9 29 6
Arrhythmogenic Right Ventricular Cardiomyopathy 9; Arvc9 57
Familial Arrhythmogenic Right Ventricular Dysplasia 9 12
Dysplasia, Arrhythmogenic Right Ventricular, Type 9 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
arrhythmogenic right ventricular dysplasia, familial, 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 609040
Disease Ontology 12 DOID:0110077
ICD10 33 I42.8
MedGen 42 C1836906
MeSH 44 D019571
UMLS 73 C1836906

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

UniProtKB/Swiss-Prot : 75 Arrhythmogenic right ventricular dysplasia, familial, 9: 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.

MalaCards based summary : Arrhythmogenic Right Ventricular Dysplasia, Familial, 9, also known as arrhythmogenic right ventricular dysplasia 9, is related to arrhythmogenic right ventricular dysplasia, familial, 4 and grover's disease, and has symptoms including syncope An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 is PKP2 (Plakophilin 2), and among its related pathways/superpathways are Keratinization and Dilated cardiomyopathy (DCM). Affiliated tissues include heart and skin, and related phenotypes are sudden cardiac death and syncope

Disease Ontology : 12 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutations in the PKP2 gene on chromosome 12p11.

Description from OMIM: 609040

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

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, 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 arrhythmogenic right ventricular dysplasia, familial, 4 10.1 PKP2 TGFB3
2 grover's disease 10.1 DSP JUP
3 epidermolysis bullosa, lethal acantholytic 10.0 DSP JUP
4 palmoplantar keratoderma and woolly hair 10.0 DSP JUP
5 ectodermal dysplasia/skin fragility syndrome 10.0 DSP JUP
6 benign chronic pemphigus 10.0 DSP JUP
7 pemphigus 10.0 DSP JUP
8 darier-white disease 10.0 DSP JUP
9 middle lobe syndrome 9.9 JUP KRT74
10 palmoplantar keratosis 9.9 DSP JUP
11 naxos disease 9.9 DSP JUP PKP2
12 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.9 DSP RYR2
13 cardiac arrhythmia 9.9 JUP RYR2
14 ventricular fibrillation, paroxysmal familial, 1 9.9 DSP RYR2
15 woolly hair syndrome 9.9 DSP KRT74
16 long qt syndrome 1 9.9 DSP PKP2 RYR2
17 cardiac conduction defect 9.8 DSP PLN RYR2
18 cardiac arrest 9.8 DSP PLN RYR2
19 arrhythmogenic right ventricular dysplasia, familial, 2 9.8 JUP RYR2 TGFB3
20 pemphigus vulgaris 9.8 DSP JUP
21 left bundle branch hemiblock 9.8 JUP KRT74 PKP2
22 hypertrophic cardiomyopathy 9.8 DSP PLN RYR2
23 atrial standstill 1 9.8 DSP JUP PKP2 PLN
24 hair disease 9.8 DSP KRT74
25 intrinsic cardiomyopathy 9.7 DSP JUP PKP2 RYR2
26 arrhythmogenic right ventricular dysplasia, familial, 1 9.6 DSP JUP RYR2 TGFB3
27 heart disease 9.6 DSP PKP2 RYR2 TGFB3
28 dilated cardiomyopathy 9.5 DSP JUP PKP2 PLN RYR2
29 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 9.5 DSP JUP PKP2 RYR2 TGFB3
30 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 9.5 DSP JUP PKP2 RYR2 TGFB3
31 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 9.5 DSP JUP PKP2 RYR2 TGFB3
32 left ventricular noncompaction 9.5 DSP JUP PKP2 RYR2 TGFB3
33 cardiomyopathy, dilated, with woolly hair and keratoderma 9.4 DSP JUP KRT74 PKP2 TGFB3
34 arrhythmogenic right ventricular cardiomyopathy 9.4 DSP JUP PKP2 PLN RYR2 TGFB3
35 arrhythmogenic right ventricular dysplasia, familial, 8 9.2 DSP JUP KRT74 PKP2 RYR2 TGFB3

Graphical network of the top 20 diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:



Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
sudden cardiac death
syncope
ventricular arrhythmia
palpitations
cardiomyopathy, right ventricular
more

Clinical features from OMIM:

609040

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 32 HP:0001645
2 syncope 32 HP:0001279
3 ventricular arrhythmia 32 HP:0004308
4 palpitations 32 HP:0001962
5 dilatation of the ventricular cavity 32 HP:0006698
6 dilatation 32 HP:0002617
7 right ventricular cardiomyopathy 32 HP:0011663

UMLS symptoms related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:


syncope

MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.02 DSP JUP PKP2 RYR2 TGFB3

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Search Clinical Trials , NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

# Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Cardiomyopathy, Type 9 29 PKP2

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

41
Heart, Skin

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

UniProtKB/Swiss-Prot genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

75
# Symbol AA change Variation ID SNP ID
1 PKP2 p.Ser615Phe VAR_021149 rs106050118
2 PKP2 p.Lys654Gln VAR_021150 rs131969051
3 PKP2 p.Cys796Arg VAR_021151 rs794729098
4 PKP2 p.Glu137Lys VAR_065705 rs781739949
5 PKP2 p.Ser169Gly VAR_065706 rs139139859
6 PKP2 p.Phe424Ser VAR_065711 rs397516990
7 PKP2 p.Tyr631Cys VAR_065716 rs106050118
8 PKP2 p.Leu787Phe VAR_065718 rs146268898

ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

6 (show top 50) (show all 585)
# Gene Variation Type Significance SNP ID Assembly Location
1 PKP2 NM_004572.3(PKP2): c.235C> T (p.Arg79Ter) single nucleotide variant Pathogenic rs121434420 GRCh37 Chromosome 12, 33031955: 33031955
2 PKP2 NM_004572.3(PKP2): c.235C> T (p.Arg79Ter) single nucleotide variant Pathogenic rs121434420 GRCh38 Chromosome 12, 32879021: 32879021
3 PKP2 NM_004572.3(PKP2): c.2203C> T (p.Arg735Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121434421 GRCh37 Chromosome 12, 32955433: 32955433
4 PKP2 NM_004572.3(PKP2): c.2203C> T (p.Arg735Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121434421 GRCh38 Chromosome 12, 32802499: 32802499
5 PKP2 NM_004572.3(PKP2): c.2146-1G> C single nucleotide variant Pathogenic rs193922674 GRCh37 Chromosome 12, 32955491: 32955491
6 PKP2 NM_004572.3(PKP2): c.2146-1G> C single nucleotide variant Pathogenic rs193922674 GRCh38 Chromosome 12, 32802557: 32802557
7 PKP2 NM_004572.3(PKP2): c.2489+1G> A single nucleotide variant Pathogenic rs111517471 GRCh37 Chromosome 12, 32949042: 32949042
8 PKP2 NM_004572.3(PKP2): c.2489+1G> A single nucleotide variant Pathogenic rs111517471 GRCh38 Chromosome 12, 32796108: 32796108
9 PKP2 NM_004572.3(PKP2): c.1613G> A (p.Trp538Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922672 GRCh37 Chromosome 12, 32994037: 32994037
10 PKP2 NM_004572.3(PKP2): c.1613G> A (p.Trp538Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922672 GRCh38 Chromosome 12, 32841103: 32841103
11 PKP2 NM_004572.3(PKP2): c.1759G> A (p.Val587Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs146102241 GRCh37 Chromosome 12, 32977026: 32977026
12 PKP2 NM_004572.3(PKP2): c.1759G> A (p.Val587Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs146102241 GRCh38 Chromosome 12, 32824092: 32824092
13 PKP2 NM_004572.3(PKP2): c.2028G> A (p.Trp676Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922673 GRCh37 Chromosome 12, 32974407: 32974407
14 PKP2 NM_004572.3(PKP2): c.2028G> A (p.Trp676Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922673 GRCh38 Chromosome 12, 32821473: 32821473
15 PLN NM_002667.4(PLN): c.40_42delAGA (p.Arg14del) deletion Pathogenic rs397516784 GRCh37 Chromosome 6, 118880124: 118880126
16 PLN NM_002667.4(PLN): c.40_42delAGA (p.Arg14del) deletion Pathogenic rs397516784 GRCh38 Chromosome 6, 118558961: 118558963
17 PKP2 NM_004572.3(PKP2): c.464G> C (p.Ser155Thr) single nucleotide variant Uncertain significance rs141438322 GRCh37 Chromosome 12, 33031350: 33031350
18 PKP2 NM_004572.3(PKP2): c.1012A> G (p.Thr338Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs139851304 GRCh37 Chromosome 12, 33030802: 33030802
19 PKP2 NM_004572.3(PKP2): c.1012A> G (p.Thr338Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs139851304 GRCh38 Chromosome 12, 32877868: 32877868
20 PKP2 NM_004572.3(PKP2): c.1034+4delA deletion Uncertain significance rs397516983 GRCh37 Chromosome 12, 33030776: 33030776
21 PKP2 NM_004572.3(PKP2): c.1034+4delA deletion Uncertain significance rs397516983 GRCh38 Chromosome 12, 32877842: 32877842
22 PKP2 NM_004572.3(PKP2): c.1080C> T (p.Leu360=) single nucleotide variant Likely benign rs397516984 GRCh37 Chromosome 12, 33021951: 33021951
23 PKP2 NM_004572.3(PKP2): c.1080C> T (p.Leu360=) single nucleotide variant Likely benign rs397516984 GRCh38 Chromosome 12, 32869017: 32869017
24 PKP2 NM_004572.3(PKP2): c.1097T> C (p.Leu366Pro) single nucleotide variant Benign/Likely benign rs1046116 GRCh37 Chromosome 12, 33021934: 33021934
25 PKP2 NM_004572.3(PKP2): c.1097T> C (p.Leu366Pro) single nucleotide variant Benign/Likely benign rs1046116 GRCh38 Chromosome 12, 32869000: 32869000
26 PKP2 NM_004572.3(PKP2): c.1114G> C (p.Ala372Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs200586695 GRCh37 Chromosome 12, 33021917: 33021917
27 PKP2 NM_004572.3(PKP2): c.1114G> C (p.Ala372Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs200586695 GRCh38 Chromosome 12, 32868983: 32868983
28 PKP2 NM_004572.3(PKP2): c.1116T> C (p.Ala372=) single nucleotide variant Conflicting interpretations of pathogenicity rs142742483 GRCh37 Chromosome 12, 33021915: 33021915
29 PKP2 NM_004572.3(PKP2): c.1116T> C (p.Ala372=) single nucleotide variant Conflicting interpretations of pathogenicity rs142742483 GRCh38 Chromosome 12, 32868981: 32868981
30 PKP2 NM_004572.3(PKP2): c.1130T> C (p.Ile377Thr) single nucleotide variant Uncertain significance rs397516985 GRCh37 Chromosome 12, 33021901: 33021901
31 PKP2 NM_004572.3(PKP2): c.1130T> C (p.Ile377Thr) single nucleotide variant Uncertain significance rs397516985 GRCh38 Chromosome 12, 32868967: 32868967
32 PKP2 NM_004572.3(PKP2): c.1171-10T> C single nucleotide variant Conflicting interpretations of pathogenicity rs200122872 GRCh37 Chromosome 12, 33003917: 33003917
33 PKP2 NM_004572.3(PKP2): c.1171-10T> C single nucleotide variant Conflicting interpretations of pathogenicity rs200122872 GRCh38 Chromosome 12, 32850983: 32850983
34 PKP2 NM_004572.3(PKP2): c.1171-11T> C single nucleotide variant Benign/Likely benign rs183414126 GRCh37 Chromosome 12, 33003918: 33003918
35 PKP2 NM_004572.3(PKP2): c.1171-11T> C single nucleotide variant Benign/Likely benign rs183414126 GRCh38 Chromosome 12, 32850984: 32850984
36 PKP2 NM_004572.3(PKP2): c.1211dupT (p.Val406Serfs) insertion Pathogenic rs397516989 GRCh37 Chromosome 12, 33003867: 33003867
37 PKP2 NM_004572.3(PKP2): c.1211dupT (p.Val406Serfs) insertion Pathogenic rs397516989 GRCh38 Chromosome 12, 32850933: 32850933
38 PKP2 NM_004572.3(PKP2): c.1237C> T (p.Arg413Ter) single nucleotide variant Pathogenic rs372827156 GRCh37 Chromosome 12, 33003841: 33003841
39 PKP2 NM_004572.3(PKP2): c.1237C> T (p.Arg413Ter) single nucleotide variant Pathogenic rs372827156 GRCh38 Chromosome 12, 32850907: 32850907
40 PKP2 NM_004572.3(PKP2): c.12C> T (p.Pro4=) single nucleotide variant Likely benign rs397516991 GRCh37 Chromosome 12, 33049654: 33049654
41 PKP2 NM_004572.3(PKP2): c.12C> T (p.Pro4=) single nucleotide variant Likely benign rs397516991 GRCh38 Chromosome 12, 32896720: 32896720
42 PKP2 NM_004572.3(PKP2): c.1372A> G (p.Ile458Val) single nucleotide variant Conflicting interpretations of pathogenicity rs199571473 GRCh37 Chromosome 12, 33003706: 33003706
43 PKP2 NM_004572.3(PKP2): c.1372A> G (p.Ile458Val) single nucleotide variant Conflicting interpretations of pathogenicity rs199571473 GRCh38 Chromosome 12, 32850772: 32850772
44 PKP2 NM_004572.3(PKP2): c.1379-1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs139159464 GRCh37 Chromosome 12, 32996248: 32996248
45 PKP2 NM_004572.3(PKP2): c.1379-1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs139159464 GRCh38 Chromosome 12, 32843314: 32843314
46 PKP2 NM_004572.3(PKP2): c.1420G> A (p.Ala474Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs138538072 GRCh37 Chromosome 12, 32996206: 32996206
47 PKP2 NM_004572.3(PKP2): c.1420G> A (p.Ala474Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs138538072 GRCh38 Chromosome 12, 32843272: 32843272
48 PKP2 NM_004572.3(PKP2): c.1433C> T (p.Ala478Val) single nucleotide variant Conflicting interpretations of pathogenicity rs144620127 GRCh37 Chromosome 12, 32996193: 32996193
49 PKP2 NM_004572.3(PKP2): c.1433C> T (p.Ala478Val) single nucleotide variant Conflicting interpretations of pathogenicity rs144620127 GRCh38 Chromosome 12, 32843259: 32843259
50 PKP2 NM_004572.3(PKP2): c.1482A> G (p.Ser494=) single nucleotide variant Likely benign rs397516995 GRCh37 Chromosome 12, 32996144: 32996144

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9.

Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Pathways related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.91 DSP JUP KRT74 PKP2
2
Show member pathways
11.67 PLN RYR2 TGFB3
3
Show member pathways
11.66 DSP JUP PKP2 RYR2
4 11.32 PLN TGFB3
5 10.83 DSP JUP
6 10.67 DSP JUP PLN RYR2

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Cellular components related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell junction GO:0005911 9.54 DSP JUP PKP2
2 cell-cell adherens junction GO:0005913 9.48 JUP PKP2
3 adherens junction GO:0005912 9.46 JUP PKP2
4 sarcoplasmic reticulum GO:0016529 9.43 PLN RYR2
5 cornified envelope GO:0001533 9.43 DSP JUP PKP2
6 sarcoplasmic reticulum membrane GO:0033017 9.4 PLN RYR2
7 intercalated disc GO:0014704 9.33 DSP JUP PKP2
8 fascia adherens GO:0005916 9.32 DSP JUP
9 intermediate filament GO:0005882 9.26 DSP JUP KRT74 PKP2
10 desmosome GO:0030057 8.8 DSP JUP PKP2

Biological processes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.62 DSP JUP KRT74 PKP2
2 cell-cell adhesion GO:0098609 9.61 DSP JUP PKP2
3 cellular calcium ion homeostasis GO:0006874 9.56 PLN RYR2
4 wound healing GO:0042060 9.55 DSP TGFB3
5 regulation of cytosolic calcium ion concentration GO:0051480 9.54 PLN RYR2
6 skin development GO:0043588 9.52 DSP JUP
7 adherens junction organization GO:0034332 9.51 DSP JUP
8 intermediate filament cytoskeleton organization GO:0045104 9.49 DSP KRT74
9 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.48 PLN RYR2
10 ventricular cardiac muscle cell action potential GO:0086005 9.46 PKP2 RYR2
11 cornification GO:0070268 9.46 DSP JUP KRT74 PKP2
12 regulation of heart rate by cardiac conduction GO:0086091 9.43 DSP JUP PKP2
13 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.4 PKP2 RYR2
14 desmosome assembly GO:0002159 9.37 JUP PKP2
15 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.13 DSP JUP PKP2
16 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, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.33 DSP JUP KRT74
2 cell adhesion molecule binding GO:0050839 9.32 DSP JUP
3 protein kinase C binding GO:0005080 9.26 DSP PKP2
4 alpha-catenin binding GO:0045294 8.96 JUP PKP2
5 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, 9

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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