VMCM
MCID: VNS013
MIFTS: 43

Venous Malformations, Multiple Cutaneous and Mucosal (VMCM)

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

Aliases & Classifications for Venous Malformations, Multiple Cutaneous and Mucosal

MalaCards integrated aliases for Venous Malformations, Multiple Cutaneous and Mucosal:

Name: Venous Malformations, Multiple Cutaneous and Mucosal 58 13 41
Multiple Cutaneous and Mucosal Venous Malformations 12 25 26 30 6 15
Vmcm 58 25 26 60 76
Cutaneous and Mucosal Venous Malformation 60 38
Mucocutaneous Venous Malformations 26 60
Vmcm1 58 26
Dominantly Inherited Venous Malformations 76

Characteristics:

Orphanet epidemiological data:

60
mucocutaneous venous malformations
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant (9p)


HPO:

33
venous malformations, multiple cutaneous and mucosal:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Approximately 90% of individuals who have a germline pathogenic gain-of-function variant in tek develop mucocutaneous venous malformations by age 20 years; conversely, approximately 10% of individuals with a germline gain-of-function tek pathogenic variant are clinically unaffected [boon et al 2004, wouters et al 2010]. reduced penetrance can be explained by the need to acquire a second, somatic pathogenic gain-of-function variant in the wild type or the already mutated tek allele in the target cell(s) to develop a lesion(s) [limaye et al 2009, soblet et al 2017]...

Classifications:



External Ids:

Disease Ontology 12 DOID:0050792
OMIM 58 600195
KEGG 38 H02044
ICD10 via Orphanet 35 Q27.8
UMLS via Orphanet 75 C1838437
Orphanet 60 ORPHA2451
MedGen 43 C1838437

Summaries for Venous Malformations, Multiple Cutaneous and Mucosal

OMIM : 58 Cutaneomucosal venous malformation (VMCM) is an uncommon, heritable form of venous malformation in which lesions tend to be multifocal and small. They are comprised of grossly dilated vascular spaces lined by a single continuous layer of endothelial cells, with areas of relative lack of surrounding mural cells, suggesting a defect in their recruitment. Some VMCM patients have venous malformations located in internal organs, and some have additional anomalies, including cardiac malformations (summary by Wouters et al., 2010). Another form of autosomal dominant venous malformation, blue rubber bleb nevus (112200), is of uncertain relationship to VMCM. Multiple cerebrovenous anomalies without cutaneous lesions are also familial; see cerebral cavernous malformations (116860). Glomuvenous malformations (138000) are similar to but clinically distinguishable from VMCMs. (600195)

MalaCards based summary : Venous Malformations, Multiple Cutaneous and Mucosal, also known as multiple cutaneous and mucosal venous malformations, is related to glomuvenous malformations and glomangioma. An important gene associated with Venous Malformations, Multiple Cutaneous and Mucosal is TEK (TEK Receptor Tyrosine Kinase), and among its related pathways/superpathways are PI3K-Akt signaling pathway and HIF-1 signaling pathway. Affiliated tissues include skin and endothelial, and related phenotypes are abnormality of the mouth and venous malformation

Disease Ontology : 12 An autosomal dominant disease that is characterized by multiple bluish cutaneous or mucosal venous lesions.

Genetics Home Reference : 26 Multiple cutaneous and mucosal venous malformations (also known as VMCM) are bluish patches (lesions) on the skin (cutaneous) and the mucous membranes, such as the lining of the mouth and nose. These lesions represent areas where the underlying veins and other blood vessels did not develop properly (venous malformations). The lesions can be painful, especially when they extend from the skin into the muscles and joints, or when a calcium deposit forms within the lesion causing inflammation and swelling.

UniProtKB/Swiss-Prot : 76 Dominantly inherited venous malformations: An error of vascular morphogenesis characterized by dilated, serpiginous channels.

GeneReviews: NBK1967

Related Diseases for Venous Malformations, Multiple Cutaneous and Mucosal

Diseases related to Venous Malformations, Multiple Cutaneous and Mucosal via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 glomuvenous malformations 32.0 GLMN KRIT1
2 glomangioma 10.3 GLMN TEK
3 weber syndrome 10.3 ACVRL1 RASA1
4 gorham's disease 10.2 FLT4 GLMN
5 cavernous malformation 10.2 CCM2 KRIT1 PDCD10
6 cerebral cavernous malformations 3 10.2 CCM2 KRIT1 PDCD10
7 central nervous system benign neoplasm 10.2 CCM2 KRIT1 PDCD10
8 yellow nail syndrome 10.2 FOXC2 SOX18
9 cerebral cavernous malformations 2 10.1 CCM2 KRIT1 PDCD10
10 cavernous hemangioma 10.1 CCM2 KRIT1 PDCD10
11 cell type benign neoplasm 10.1 CCM2 KRIT1 PDCD10
12 hereditary lymphedema i 10.1 FLT4 SOX18
13 congenital lymphedema 10.1 FLT4 FOXC2
14 arteriovenous malformations of the brain 10.1 ACVRL1 PDCD10 RASA1
15 capillary hemangioma 10.1 RASA1 TEK
16 hereditary lymphedema 10.0 FLT4 FOXC2 SOX18
17 proteus syndrome 10.0 AGGF1 PTEN RASA1
18 chylothorax, congenital 10.0 FLT4 FOXC2
19 vascular hemostatic disease 10.0 CCM2 KRIT1
20 human venous malformation 9.9 CCM2 GLMN KRIT1 PDCD10 TEK
21 arteriovenous malformation 9.9 ACVRL1 PTEN RASA1
22 cerebral cavernous malformations 9.9 CCM2 KRIT1 PDCD10 PTEN
23 telangiectasis 9.8 ACVRL1 SMAD4 SOX18
24 lymphedema 9.8 FLT4 FOXC2 IKBKG SOX18
25 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 9.8 ACVRL1 RASA1 SMAD4
26 hemangioma 9.7 CCM2 FLT4 KRIT1 PTEN TEK
27 precursor t-cell acute lymphoblastic leukemia 9.6 CDKN2B NOTCH3 PTEN
28 klippel-trenaunay-weber syndrome 9.1 AGGF1 CCM2 FLT4 FOXC2 GLMN KRIT1

Graphical network of the top 20 diseases related to Venous Malformations, Multiple Cutaneous and Mucosal:



Diseases related to Venous Malformations, Multiple Cutaneous and Mucosal

Symptoms & Phenotypes for Venous Malformations, Multiple Cutaneous and Mucosal

Human phenotypes related to Venous Malformations, Multiple Cutaneous and Mucosal:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of the mouth 33 HP:0000153
2 venous malformation 33 HP:0012721
3 intestinal bleeding 33 HP:0002584

Symptoms via clinical synopsis from OMIM:

58
Vascular:
cutaneous and mucosal venous malformations

G I:
variable gastrointestinal bleeding

Mouth:
mucosal bleeding
maxillary and mandibular deformity

Clinical features from OMIM:

600195

GenomeRNAi Phenotypes related to Venous Malformations, Multiple Cutaneous and Mucosal according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased sensitivity to paclitaxel GR00112-A-0 8.96 PTEN SMAD4
2 Increased mitotic index GR00110-A-0 8.8 FLT4 SMAD4 TEK

MGI Mouse Phenotypes related to Venous Malformations, Multiple Cutaneous and Mucosal:

47 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.44 ACVRL1 AGGF1 CCM2 FLT4 FOXC2 GLMN
2 growth/size/body region MP:0005378 10.39 ACVRL1 CCM2 FLT4 FOXC2 GLMN IKBKG
3 embryo MP:0005380 10.34 ACVRL1 AGGF1 CCM2 FLT4 FOXC2 GLMN
4 mortality/aging MP:0010768 10.33 ACVRL1 AGGF1 CCM2 CDKN2B FLT4 FOXC2
5 cellular MP:0005384 10.3 AGGF1 CCM2 CDKN2B GLMN IKBKG NOTCH3
6 homeostasis/metabolism MP:0005376 10.29 ACVRL1 CCM2 CDKN2B FLT4 FOXC2 GLMN
7 behavior/neurological MP:0005386 10.27 ACVRL1 AGGF1 CCM2 IKBKG NOTCH3 PDCD10
8 immune system MP:0005387 10.2 CCM2 CDKN2B FLT4 FOXC2 IKBKG NOTCH3
9 hematopoietic system MP:0005397 10.15 ACVRL1 CCM2 CDKN2B IKBKG NOTCH3 PDCD10
10 digestive/alimentary MP:0005381 10.14 ACVRL1 FLT4 FOXC2 IKBKG PTEN RASA1
11 integument MP:0010771 10.13 CCM2 CDKN2B FLT4 IKBKG KRIT1 NOTCH3
12 muscle MP:0005369 10.11 ACVRL1 CCM2 FLT4 FOXC2 KRIT1 NOTCH3
13 nervous system MP:0003631 10.07 ACVRL1 AGGF1 CCM2 FOXC2 GLMN KRIT1
14 craniofacial MP:0005382 10.02 ACVRL1 CCM2 FOXC2 KRIT1 RASA1 SMAD4
15 neoplasm MP:0002006 9.92 AGGF1 CDKN2B IKBKG KRIT1 NOTCH3 PDCD10
16 normal MP:0002873 9.9 ACVRL1 CCM2 FLT4 FOXC2 IKBKG NOTCH3
17 renal/urinary system MP:0005367 9.5 ACVRL1 CDKN2B FOXC2 NOTCH3 PDCD10 PTEN
18 vision/eye MP:0005391 9.17 CCM2 FOXC2 KRIT1 NOTCH3 PDCD10 PTEN

Drugs & Therapeutics for Venous Malformations, Multiple Cutaneous and Mucosal

Search Clinical Trials , NIH Clinical Center for Venous Malformations, Multiple Cutaneous and Mucosal

Genetic Tests for Venous Malformations, Multiple Cutaneous and Mucosal

Genetic tests related to Venous Malformations, Multiple Cutaneous and Mucosal:

# Genetic test Affiliating Genes
1 Multiple Cutaneous and Mucosal Venous Malformations 30 TEK

Anatomical Context for Venous Malformations, Multiple Cutaneous and Mucosal

MalaCards organs/tissues related to Venous Malformations, Multiple Cutaneous and Mucosal:

42
Skin, Endothelial

Publications for Venous Malformations, Multiple Cutaneous and Mucosal

Articles related to Venous Malformations, Multiple Cutaneous and Mucosal:

# Title Authors Year
1
Multiple Cutaneous and Mucosal Venous Malformations ( 20301733 )
1993

Variations for Venous Malformations, Multiple Cutaneous and Mucosal

UniProtKB/Swiss-Prot genetic disease variations for Venous Malformations, Multiple Cutaneous and Mucosal:

76
# Symbol AA change Variation ID SNP ID
1 TEK p.Arg849Trp VAR_006352 rs80338908
2 TEK p.Tyr897Ser VAR_008716 rs80338909
3 TEK p.Tyr897Cys VAR_066606 rs80338909
4 TEK p.Arg915His VAR_066607 rs387906745
5 TEK p.Arg918Cys VAR_066608
6 TEK p.Val919Leu VAR_066609
7 TEK p.Ala925Ser VAR_066610
8 TEK p.Lys1100Asn VAR_066611

ClinVar genetic disease variations for Venous Malformations, Multiple Cutaneous and Mucosal:

6 (show top 50) (show all 152)
# Gene Variation Type Significance SNP ID Assembly Location
1 TEK NM_000459.4(TEK): c.2545C> T (p.Arg849Trp) single nucleotide variant Pathogenic rs80338908 GRCh37 Chromosome 9, 27206760: 27206760
2 TEK NM_000459.4(TEK): c.2545C> T (p.Arg849Trp) single nucleotide variant Pathogenic rs80338908 GRCh38 Chromosome 9, 27206762: 27206762
3 TEK NM_000459.4(TEK): c.2690A> C (p.Tyr897Ser) single nucleotide variant Pathogenic rs80338909 GRCh37 Chromosome 9, 27212708: 27212708
4 TEK NM_000459.4(TEK): c.2690A> C (p.Tyr897Ser) single nucleotide variant Pathogenic rs80338909 GRCh38 Chromosome 9, 27212710: 27212710
5 TEK NM_000459.4(TEK): c.2690A> G (p.Tyr897Cys) single nucleotide variant Pathogenic rs80338909 GRCh37 Chromosome 9, 27212708: 27212708
6 TEK NM_000459.4(TEK): c.2690A> G (p.Tyr897Cys) single nucleotide variant Pathogenic rs80338909 GRCh38 Chromosome 9, 27212710: 27212710
7 TEK NM_000459.4(TEK): c.2744G> A (p.Arg915His) single nucleotide variant Pathogenic rs387906745 GRCh37 Chromosome 9, 27212762: 27212762
8 TEK NM_000459.4(TEK): c.2744G> A (p.Arg915His) single nucleotide variant Pathogenic rs387906745 GRCh38 Chromosome 9, 27212764: 27212764
9 TEK NM_000459.4(TEK): c.-96G> A single nucleotide variant Likely benign rs534352362 GRCh38 Chromosome 9, 27109495: 27109495
10 TEK NM_000459.4(TEK): c.-96G> A single nucleotide variant Likely benign rs534352362 GRCh37 Chromosome 9, 27109493: 27109493
11 TEK NM_000459.4(TEK): c.1680T> C (p.Asn560=) single nucleotide variant Benign rs35357088 GRCh37 Chromosome 9, 27197368: 27197368
12 TEK NM_000459.4(TEK): c.1680T> C (p.Asn560=) single nucleotide variant Benign rs35357088 GRCh38 Chromosome 9, 27197370: 27197370
13 TEK NM_000459.4(TEK): c.1798G> T (p.Val600Leu) single nucleotide variant Benign rs35030851 GRCh38 Chromosome 9, 27197488: 27197488
14 TEK NM_000459.4(TEK): c.1798G> T (p.Val600Leu) single nucleotide variant Benign rs35030851 GRCh37 Chromosome 9, 27197486: 27197486
15 TEK NM_000459.4(TEK): c.2170G> A (p.Ala724Thr) single nucleotide variant Benign rs4631561 GRCh38 Chromosome 9, 27203080: 27203080
16 TEK NM_000459.4(TEK): c.2170G> A (p.Ala724Thr) single nucleotide variant Benign rs4631561 GRCh37 Chromosome 9, 27203078: 27203078
17 TEK NM_000459.4(TEK): c.2454G> C (p.Val818=) single nucleotide variant Benign rs55789591 GRCh38 Chromosome 9, 27206671: 27206671
18 TEK NM_000459.4(TEK): c.2454G> C (p.Val818=) single nucleotide variant Benign rs55789591 GRCh37 Chromosome 9, 27206669: 27206669
19 TEK NM_000459.4(TEK): c.3200+12C> G single nucleotide variant Likely benign rs148623971 GRCh37 Chromosome 9, 27220155: 27220155
20 TEK NM_000459.4(TEK): c.3200+12C> G single nucleotide variant Likely benign rs148623971 GRCh38 Chromosome 9, 27220157: 27220157
21 TEK NM_000459.4(TEK): c.*536C> T single nucleotide variant Likely benign rs535524868 GRCh37 Chromosome 9, 27229766: 27229766
22 TEK NM_000459.4(TEK): c.*536C> T single nucleotide variant Likely benign rs535524868 GRCh38 Chromosome 9, 27229768: 27229768
23 TEK NM_000459.4(TEK): c.*788_*789delAT deletion Uncertain significance rs140755654 GRCh38 Chromosome 9, 27230020: 27230021
24 TEK NM_000459.4(TEK): c.*788_*789delAT deletion Uncertain significance rs140755654 GRCh37 Chromosome 9, 27230018: 27230019
25 TEK NM_000459.4(TEK): c.*904T> G single nucleotide variant Uncertain significance rs886063831 GRCh38 Chromosome 9, 27230136: 27230136
26 TEK NM_000459.4(TEK): c.*904T> G single nucleotide variant Uncertain significance rs886063831 GRCh37 Chromosome 9, 27230134: 27230134
27 TEK NM_000459.4(TEK): c.-425A> G single nucleotide variant Likely benign rs149944814 GRCh38 Chromosome 9, 27109166: 27109166
28 TEK NM_000459.4(TEK): c.-425A> G single nucleotide variant Likely benign rs149944814 GRCh37 Chromosome 9, 27109164: 27109164
29 TEK NM_000459.4(TEK): c.138C> T (p.Ala46=) single nucleotide variant Likely benign rs76223779 GRCh38 Chromosome 9, 27157916: 27157916
30 TEK NM_000459.4(TEK): c.138C> T (p.Ala46=) single nucleotide variant Likely benign rs76223779 GRCh37 Chromosome 9, 27157914: 27157914
31 TEK NM_000459.4(TEK): c.1390A> C (p.Asn464His) single nucleotide variant Likely benign rs746069957 GRCh37 Chromosome 9, 27190589: 27190589
32 TEK NM_000459.4(TEK): c.1390A> C (p.Asn464His) single nucleotide variant Likely benign rs746069957 GRCh38 Chromosome 9, 27190591: 27190591
33 TEK NM_000459.4(TEK): c.1456G> A (p.Val486Ile) single nucleotide variant Benign rs1334811 GRCh37 Chromosome 9, 27190655: 27190655
34 TEK NM_000459.4(TEK): c.1456G> A (p.Val486Ile) single nucleotide variant Benign rs1334811 GRCh38 Chromosome 9, 27190657: 27190657
35 TEK NM_000459.4(TEK): c.1565G> T (p.Arg522Leu) single nucleotide variant Likely benign rs138894008 GRCh37 Chromosome 9, 27192562: 27192562
36 TEK NM_000459.4(TEK): c.1565G> T (p.Arg522Leu) single nucleotide variant Likely benign rs138894008 GRCh38 Chromosome 9, 27192564: 27192564
37 TEK NM_000459.4(TEK): c.1834G> A (p.Val612Met) single nucleotide variant Uncertain significance rs764571511 GRCh38 Chromosome 9, 27197524: 27197524
38 TEK NM_000459.4(TEK): c.1834G> A (p.Val612Met) single nucleotide variant Uncertain significance rs764571511 GRCh37 Chromosome 9, 27197522: 27197522
39 TEK NM_000459.4(TEK): c.1973C> A (p.Ser658Tyr) single nucleotide variant Uncertain significance rs886063822 GRCh38 Chromosome 9, 27202883: 27202883
40 TEK NM_000459.4(TEK): c.1973C> A (p.Ser658Tyr) single nucleotide variant Uncertain significance rs886063822 GRCh37 Chromosome 9, 27202881: 27202881
41 TEK NM_000459.4(TEK): c.2052C> T (p.His684=) single nucleotide variant Likely benign rs35818764 GRCh38 Chromosome 9, 27202962: 27202962
42 TEK NM_000459.4(TEK): c.2052C> T (p.His684=) single nucleotide variant Likely benign rs35818764 GRCh37 Chromosome 9, 27202960: 27202960
43 TEK NM_000459.4(TEK): c.2444T> C (p.Ile815Thr) single nucleotide variant Uncertain significance rs777012163 GRCh38 Chromosome 9, 27206661: 27206661
44 TEK NM_000459.4(TEK): c.2444T> C (p.Ile815Thr) single nucleotide variant Uncertain significance rs777012163 GRCh37 Chromosome 9, 27206659: 27206659
45 TEK NM_000459.4(TEK): c.2877+8C> T single nucleotide variant Likely benign rs201140196 GRCh38 Chromosome 9, 27212905: 27212905
46 TEK NM_000459.4(TEK): c.2877+8C> T single nucleotide variant Likely benign rs201140196 GRCh37 Chromosome 9, 27212903: 27212903
47 TEK NM_000459.4(TEK): c.3090G> A (p.Glu1030=) single nucleotide variant Likely benign rs56133834 GRCh38 Chromosome 9, 27218804: 27218804
48 TEK NM_000459.4(TEK): c.3090G> A (p.Glu1030=) single nucleotide variant Likely benign rs56133834 GRCh37 Chromosome 9, 27218802: 27218802
49 TEK NM_000459.4(TEK): c.3104-15C> G single nucleotide variant Likely benign rs766232720 GRCh38 Chromosome 9, 27220034: 27220034
50 TEK NM_000459.4(TEK): c.3104-15C> G single nucleotide variant Likely benign rs766232720 GRCh37 Chromosome 9, 27220032: 27220032

Expression for Venous Malformations, Multiple Cutaneous and Mucosal

Search GEO for disease gene expression data for Venous Malformations, Multiple Cutaneous and Mucosal.

Pathways for Venous Malformations, Multiple Cutaneous and Mucosal

Pathways related to Venous Malformations, Multiple Cutaneous and Mucosal according to KEGG:

38
# Name Kegg Source Accession
1 PI3K-Akt signaling pathway hsa04151
2 HIF-1 signaling pathway hsa04066

GO Terms for Venous Malformations, Multiple Cutaneous and Mucosal

Cellular components related to Venous Malformations, Multiple Cutaneous and Mucosal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.73 AGGF1 CCM2 CDKN2B FLT4 GLMN IKBKG
2 receptor complex GO:0043235 8.92 ACVRL1 FLT4 NOTCH3 TEK

Biological processes related to Venous Malformations, Multiple Cutaneous and Mucosal according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.96 FLT4 PDCD10 PTEN RASA1 TEK
2 cell differentiation GO:0030154 9.85 AGGF1 FOXC2 NOTCH3 SOX18
3 in utero embryonic development GO:0001701 9.81 ACVRL1 CCM2 SMAD4 SOX18
4 positive regulation of angiogenesis GO:0045766 9.78 ACVRL1 AGGF1 TEK
5 heart development GO:0007507 9.77 CCM2 FOXC2 PTEN SOX18 TEK
6 positive regulation of endothelial cell migration GO:0010595 9.65 FLT4 FOXC2 TEK
7 positive regulation of endothelial cell proliferation GO:0001938 9.62 ACVRL1 AGGF1 FLT4 TEK
8 blood vessel morphogenesis GO:0048514 9.61 ACVRL1 FLT4 RASA1
9 artery morphogenesis GO:0048844 9.6 FOXC2 NOTCH3
10 negative regulation of endothelial cell migration GO:0010596 9.59 ACVRL1 KRIT1
11 negative regulation of axonogenesis GO:0050771 9.58 PTEN SYNGAP1
12 embryonic heart tube development GO:0035050 9.58 FOXC2 SOX18
13 vasculature development GO:0001944 9.58 CCM2 FLT4 SOX18
14 negative regulation of focal adhesion assembly GO:0051895 9.57 ACVRL1 PTEN
15 vasculogenesis GO:0001570 9.55 AGGF1 CCM2 GLMN RASA1 SOX18
16 endocardial cell differentiation GO:0060956 9.54 SMAD4 SOX18
17 endothelial tube morphogenesis GO:0061154 9.52 ACVRL1 CCM2
18 lymphatic endothelial cell differentiation GO:0060836 9.49 ACVRL1 SOX18
19 lymph vessel development GO:0001945 9.43 FLT4 FOXC2 SOX18
20 lymphangiogenesis GO:0001946 9.26 ACVRL1 FLT4 FOXC2 SOX18
21 angiogenesis GO:0001525 9.23 ACVRL1 AGGF1 FLT4 KRIT1 PDCD10 PTEN
22 positive regulation of transcription by RNA polymerase II GO:0045944 10 ACVRL1 CDKN2B FOXC2 IKBKG NOTCH3 SMAD4

Molecular functions related to Venous Malformations, Multiple Cutaneous and Mucosal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.83 ACVRL1 AGGF1 CCM2 CDKN2B FLT4 FOXC2
2 growth factor binding GO:0019838 8.8 ACVRL1 FLT4 TEK

Sources for Venous Malformations, Multiple Cutaneous and Mucosal

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
Content
Loading form....