MCID: VND002
MIFTS: 50

Van Der Woude Syndrome

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Van Der Woude Syndrome

MalaCards integrated aliases for Van Der Woude Syndrome:

Name: Van Der Woude Syndrome 54 12 50 24 25 56 29 13 52 42 14 69
Lip-Pit Syndrome 12 25 56 71
Vws 50 24 25 56
Cleft Lip and/or Palate with Mucous Cysts of Lower Lip 50 25 71
Vdws 50 25 71
Lps 50 71
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments 42
Cleft Lip/palate with Mucous Cysts of Lower Lip 56
Van Der Woude Syndrome 1 71
Lip Pit Syndrome 50
Lip Pit 29
Vws1 71
Pit 71

Characteristics:

Orphanet epidemiological data:

56
van der woude syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Finland),1-9/100000 (France),1-9/100000 (Australia),1-9/1000000 (Taiwan, Province of China),1-9/1000000 (United States),1-9/100000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
van der woude syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 119300
Disease Ontology 12 DOID:0060239
ICD10 33 Q38.0
NCIt 47 C74986
SNOMED-CT 64 79261008
Orphanet 56 ORPHA888
MESH via Orphanet 43 C536528
UMLS via Orphanet 70 C0175697
ICD10 via Orphanet 34 Q38.0
MedGen 40 C0175697

Summaries for Van Der Woude Syndrome

NIH Rare Diseases : 50 van der woude syndrome is a condition that affects the development of the face. many people with this disorder are born with a cleft lip and/or a cleft palate. affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. small mounds of tissue on the lower lip may also occur. in some cases, people with van der woude syndrome have missing teeth. growth and intelligence are usually normal. this condition is caused by mutations in the irf6 gene and is inherited in a autosomal dominant fashion. van der woude syndrome represents the mild end of the spectrum of disorders known as irf6-related disorders. at the more severe end of the spectrum is popliteal pterygium syndrome. last updated: 3/4/2016

MalaCards based summary : Van Der Woude Syndrome, also known as lip-pit syndrome, is related to van der woude syndrome 2 and popliteal pterygium syndrome 1, and has symptoms including cleft palate, hypodontia and cleft upper lip. An important gene associated with Van Der Woude Syndrome is IRF6 (Interferon Regulatory Factor 6). The drugs Adalimumab and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include salivary gland, testes and brain, and related phenotype is limbs/digits/tail.

UniProtKB/Swiss-Prot : 71 Van der Woude syndrome 1: An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate.

Genetics Home Reference : 25 Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with van der Woude syndrome have missing teeth.

OMIM : 54
Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. (119300)

Disease Ontology : 12 A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone.

Related Diseases for Van Der Woude Syndrome

Diseases related to Van Der Woude Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 194)
id Related Disease Score Top Affiliating Genes
1 van der woude syndrome 2 34.4 CFAP57 GRHL3
2 popliteal pterygium syndrome 1 31.0 GRHL3 IRF6 RIPK4 SATB2
3 nemaline myopathy 3, autosomal dominant or recessive 12.2
4 hypertelorism, preauricular sinus, punctal pits, and deafness 12.0
5 annular lichen planus 11.8
6 annular atrophic lichen planus 11.6
7 atrophic lichen planus 11.6
8 actinic lichen planus 11.6
9 rare lichen planus 11.5
10 urbach-wiethe disease 11.2
11 lichen planus pemphigoides 11.2
12 irf6-related disorders 11.2
13 reticulate acropigmentation of kitamura 11.1
14 dental caries 11.1
15 lichen planus 11.1
16 psoriatic arthritis 11.1
17 amelogenesis imperfecta 11.1
18 lichen planus pigmentosus 11.0
19 linear lichen planus 11.0
20 preauricular sinus 10.9
21 kuster syndrome 10.9
22 basal cell nevus syndrome 10.9
23 darier disease 10.9
24 ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 10.7
25 vulvovaginal gingival syndrome 10.7
26 cleft lip 10.4
27 endotheliitis 10.3
28 alcoholic hepatitis 10.3
29 sinusitis 10.3
30 hepatitis 10.1
31 orofacial cleft 10.1
32 syngnathia 10.1
33 taurodontism 10.1
34 microcephaly 10.1
35 distichiasis 10.1
36 turner syndrome 10.1
37 lower lip fistula 10.1
38 sensorineural hearing loss 10.1
39 peritonitis 9.9
40 periodontitis 9.9
41 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 9.9 GRHL3 IRF6 RIPK4
42 obesity 9.8
43 astrocytoma 9.8
44 gingivitis 9.8
45 myocardial infarction 9.8
46 arthritis 9.8
47 atherosclerosis 9.8
48 mastitis 9.8
49 autoimmune hepatitis 9.8
50 myasthenic syndrome, congenital, 2a, slow-channel 9.8 GRHL3 IRF6 SATB2

Graphical network of the top 20 diseases related to Van Der Woude Syndrome:



Diseases related to Van Der Woude Syndrome

Symptoms & Phenotypes for Van Der Woude Syndrome

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Mouth:
cleft palate
cleft lip
lower lip pits
cleft uvula

Head And Neck- Teeth:
hypodontia


Clinical features from OMIM:

119300

Human phenotypes related to Van Der Woude Syndrome:

56 32 (show all 7)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 56 32 frequent (33%) Frequent (79-30%) HP:0000175
2 hypodontia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000668
3 cleft upper lip 56 32 occasional (7.5%) Occasional (29-5%) HP:0000204
4 lower lip pit 56 32 frequent (33%) Frequent (79-30%) HP:0000196
5 abnormality of the salivary glands 56 32 occasional (7.5%) Occasional (29-5%) HP:0010286
6 bifid uvula 32 HP:0000193
7 lip pit 56 Very frequent (99-80%)

MGI Mouse Phenotypes related to Van Der Woude Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.02 CNTN2 GRHL3 IRF6 RIPK4 SATB2

Drugs & Therapeutics for Van Der Woude Syndrome

Drugs for Van Der Woude Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adalimumab Approved Phase 4,Phase 3 331731-18-1 16219006
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3 Vedolizumab Approved Phase 4 943609-66-3
4 Anti-Inflammatory Agents Phase 4,Phase 3
5 Antirheumatic Agents Phase 4,Phase 3
6 Gastrointestinal Agents Phase 4
7 Autonomic Agents Phase 4
8 Dopamine Agents Phase 4
9 Neurotransmitter Agents Phase 4
10 Peripheral Nervous System Agents Phase 4
11 Protective Agents Phase 4
12 Antibodies Phase 4
13 Immunoglobulins Phase 4
14 Immunosuppressive Agents Phase 4
15
Ciprofloxacin Approved, Investigational Phase 3 85721-33-1 2764
16 Anti-Bacterial Agents Phase 3
17 Anti-Infective Agents Phase 3
18 Cytochrome P-450 CYP1A2 Inhibitors Phase 3
19 Cytochrome P-450 Enzyme Inhibitors Phase 3
20 Topoisomerase Inhibitors Phase 3
21
Paclitaxel Approved, Vet_approved Phase 1, Phase 2 33069-62-4 36314
22 Muromonab-CD3 Phase 1, Phase 2
23 Albumin-Bound Paclitaxel Phase 1, Phase 2
24 Antimitotic Agents Phase 1, Phase 2
25 Antineoplastic Agents, Phytogenic Phase 1, Phase 2
26
Oxaliplatin Approved, Investigational Phase 1 61825-94-3 5310940 9887054 43805 6857599
27
s 1 (combination) Phase 1
28
Infliximab Approved 170277-31-3
29 Dermatologic Agents

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Donor Dopamine and Initial Graft Function Completed NCT00115115 Phase 4 Dopamine infusion to brain dead organ donors
2 Lengthening Adalimumab Dosing Interval in Quiescent Crohn's Disease Patients Recruiting NCT03172377 Phase 4
3 An Open Label Phase 4 Study to Evaluate Efficacy of Early Versus Late Use of Vedolizumab in Ulcerative Colitis Recruiting NCT02646657 Phase 4 Vedolizumab 300 mg
4 A Study to Evaluate Efficacy, of Early Versus Late Use of Vedolizumab in Crohn's Disease: the LOVE-CD Study Recruiting NCT02646683 Phase 4 vedolizumab
5 Adalimumab in Combination With Ciprofloxacin/Placebo Treatment of Perianal Fistulas in Crohn's Completed NCT00736983 Phase 3 adalimumab;ciprofloxacin
6 NI-0401 in Active Crohn's Disease Completed NCT00630643 Phase 1, Phase 2 Placebo
7 A Pilot Study of FFP104 in Subjects With Crohn's Disease Recruiting NCT02465944 Phase 1, Phase 2 FFP104;Placebo
8 Regorafenib in Combination With Paclitaxel in Advanced Oesophagogastric Carcinoma Recruiting NCT02406170 Phase 1, Phase 2 Regorafenib;Paclitaxel
9 Feasibility Study of Adjuvant Treatment With S-1 and Oxaliplatin in Patients With Resectable Esophageal Cancer Recruiting NCT02347904 Phase 1 S-1 and Oxaliplatin
10 Biomarkers of Anti-TNF Treatment in IBD Unknown status NCT01971970

Search NIH Clinical Center for Van Der Woude Syndrome

Cochrane evidence based reviews: van der woude syndrome

Genetic Tests for Van Der Woude Syndrome

Genetic tests related to Van Der Woude Syndrome:

id Genetic test Affiliating Genes
1 Van Der Woude Syndrome 29 24 IRF6
2 Lip Pit 29

Anatomical Context for Van Der Woude Syndrome

MalaCards organs/tissues related to Van Der Woude Syndrome:

39
Salivary Gland, Testes, Brain

Publications for Van Der Woude Syndrome

Articles related to Van Der Woude Syndrome:

(show top 50) (show all 146)
id Title Authors Year
1
Van der Woude syndrome presenting as a single median lower lip pit with associated dental, orofacial and limb deformities: a rare case report. ( 28875142 )
2017
2
Surgical management of lower lip pits in Van der Woude syndrome. ( 28893716 )
2017
3
Concurrent Van der Woude syndrome and Turner syndrome: A case report. ( 28228961 )
2017
4
Multidisciplinary management of a patient with van der Woude syndrome: A case report. ( 28012331 )
2016
5
A Novel Interferon Regulatory Factor 6 Mutation in an Asian Family With Van der Woude Syndrome. ( 27243668 )
2016
6
Association study between Van der Woude Syndrome causative gene GRHL3 and nonsyndromic cleft lip with or without cleft palate in a Chinese cohort. ( 27129939 )
2016
7
Interferon Regulatory Factor 6 Controls Proliferation of Keratinocytes From Children With Van der Woude Syndrome. ( 27115562 )
2016
8
Management of Lip Pits in Van der Woude Syndrome: A Clinical Classification With Difficulty Index. ( 27321409 )
2016
9
Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa. ( 24936515 )
2014
10
Van der woude syndrome with short review of the literature. ( 25050184 )
2014
11
Craniofacial morphology in children with van der Woude syndrome and isolated cleft palate. ( 25516228 )
2014
12
Van der Woude syndrome: a review of 11 cases seen at the Lagos University Teaching Hospital. ( 24647295 )
2014
13
Van der woude syndrome (lip pit-cleft lip syndrome). ( 24461788 )
2014
14
Dominant Mutations in GRHL3 Cause Van der Woude Syndrome and Disrupt Oral Periderm Development. ( 24360809 )
2014
15
Genome-wide copy number scan identifies IRF6 involvement in Van der Woude syndrome in an Indian family. ( 25579819 )
2014
16
Van der Woude syndrome: report of two cases with supplementary findings. ( 24025891 )
2013
17
Novel lip pit phenotypes and mutations of IRF6 in Van der Woude syndrome patients from Pakistan. ( 23713753 )
2013
18
De novo 2.3 Mb microdeletion of 1q32.2 involving the Van der Woude Syndrome locus. ( 23915469 )
2013
19
Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases. ( 23154523 )
2013
20
Inverted-T lip reduction for lower lip repair in Van der Woude syndrome: a review and comparison of aesthetic results. ( 23290085 )
2013
21
Congenital lower lip pits (van der Woude syndrome): what pathologists need to know. ( 23947719 )
2013
22
Van der Woude syndrome: Management in the mixed dentition. ( 23853466 )
2013
23
A novel mutation in the IRF6 gene associated with facial asymmetry in a family affected with Van der Woude syndrome. ( 21995291 )
2012
24
Van der Woude syndrome- a syndromic form of orofacial clefting. ( 24558537 )
2012
25
Van der woude syndrome associated with hypodontia: a rare clinical entity. ( 23326687 )
2012
26
An alternative technique using a gutta percha points and blue methylene to excision of congenital fistula of lower lip in patient with Van der Woude syndrome. ( 23037784 )
2012
27
Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome. ( 21574244 )
2011
28
Van der Woude syndrome with an unusual intraoral finding. ( 21525698 )
2011
29
IRF6 mutations may not be a major cause of Van der Woude syndrome in India. ( 20845047 )
2011
30
Oral and maxillofacial pathology. Case of the month. Van der Woude syndrome (VWS). ( 21957792 )
2011
31
Monozygotic twins with variable expression of Van der Woude syndrome. ( 21739575 )
2011
32
Symmetric lower lip pits - Van Der Woude syndrome. ( 21999450 )
2011
33
Novel IRF6 mutations in Honduran Van der Woude syndrome patients. ( 21468557 )
2011
34
Wound complications after cleft repair in children with Van der Woude syndrome. ( 20856020 )
2010
35
Highlighted article: "identification of a Van der Woude syndrome mutation in the cleft palate 1 mutant mouse" by Stottmann, Bjork, Doyle, and Beier. ( 20461822 )
2010
36
A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis. ( 19536562 )
2010
37
Identification of a Van der Woude syndrome mutation in the cleft palate 1 mutant mouse. ( 20196077 )
2010
38
Lower lip pits in a patient with van der Woude syndrome. ( 20818247 )
2010
39
The role of 9qh+ in phenotypic and genotypic heterogeneity in a Van der Woude syndrome pedigree. ( 20660977 )
2010
40
Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan. ( 20184620 )
2010
41
Van der Woude syndrome: dentofacial features and implications for clinical practice. ( 20415912 )
2010
42
Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome. ( 20856073 )
2010
43
Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling. ( 19623037 )
2009
44
Isolated lower lip fistulas in Van der Woude syndrome. ( 19816310 )
2009
45
Reconstruction of the lower lip in Van der Woude syndrome. ( 19325355 )
2009
46
Coding region of IRF6 gene may not be causal for Van der Woude syndrome in cases from India. ( 19929101 )
2009
47
Three novel mutations of the IRF6 gene with one associated with an unusual feature in Van der Woude syndrome. ( 19842205 )
2009
48
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome. ( 19282774 )
2009
49
Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6. ( 19036739 )
2009
50
Van der Woude Syndrome and lower lip pits treatment. ( 18280401 )
2008

Variations for Van Der Woude Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Van Der Woude Syndrome:

71 (show all 34)
id Symbol AA change Variation ID SNP ID
1 IRF6 p.Ala2Val VAR_014961 rs28942093
2 IRF6 p.Val18Ala VAR_014962
3 IRF6 p.Val18Met VAR_014963
4 IRF6 p.Pro39Ala VAR_014964
5 IRF6 p.Ala61Gly VAR_014966
6 IRF6 p.Gly70Arg VAR_014968 rs776236749
7 IRF6 p.Pro76Ser VAR_014969
8 IRF6 p.Asn88His VAR_014973
9 IRF6 p.Ser90Gly VAR_014975
10 IRF6 p.Asp98His VAR_014976
11 IRF6 p.Arg250Gln VAR_014977
12 IRF6 p.Gln273Arg VAR_014978
13 IRF6 p.Leu294Pro VAR_014981
14 IRF6 p.Val297Ile VAR_014982
15 IRF6 p.Lys320Glu VAR_014983
16 IRF6 p.Val321Met VAR_014984
17 IRF6 p.Gly325Glu VAR_014985
18 IRF6 p.Leu345Pro VAR_014986
19 IRF6 p.Cys347Phe VAR_014987
20 IRF6 p.Phe369Ser VAR_014988
21 IRF6 p.Cys374Trp VAR_014989
22 IRF6 p.Lys388Glu VAR_014990
23 IRF6 p.Arg6Cys VAR_030046 rs28942094
24 IRF6 p.Ala16Val VAR_030047
25 IRF6 p.Leu22Pro VAR_030048 rs387906967
26 IRF6 p.Arg45Gln VAR_030049 rs121434229
27 IRF6 p.Thr64Ile VAR_030050
28 IRF6 p.Arg84Gly VAR_030051
29 IRF6 p.Thr100Ala VAR_030052
30 IRF6 p.Leu251Pro VAR_030053
31 IRF6 p.Glu349Val VAR_030054
32 IRF6 p.Pro396Ser VAR_030055 rs121434230
33 IRF6 p.Arg400Trp VAR_030056 rs28942095
34 IRF6 p.Arg339Ile VAR_059080 rs121434231

ClinVar genetic disease variations for Van Der Woude Syndrome:

6 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1 IRF6 NM_006147.3(IRF6): c.274G> T (p.Glu92Ter) single nucleotide variant Pathogenic rs121434224 GRCh37 Chromosome 1, 209969798: 209969798
2 IRF6 NM_006147.3(IRF6): c.870_888del19insA (p.Phe290_Asp296delinsLeu) indel Pathogenic rs587776569 GRCh37 Chromosome 1, 209964012: 209964030
3 IRF6 NM_006147.3(IRF6): c.5C> T (p.Ala2Val) single nucleotide variant Pathogenic rs28942093 GRCh37 Chromosome 1, 209974754: 209974754
4 IRF6 NM_006147.3(IRF6): c.16C> T (p.Arg6Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28942094 GRCh37 Chromosome 1, 209974743: 209974743
5 IRF6 NM_006147.3(IRF6): c.1137G> A (p.Trp379Ter) single nucleotide variant Pathogenic rs121434228 GRCh37 Chromosome 1, 209963054: 209963054
6 IRF6 NM_006147.3(IRF6): c.1198C> T (p.Arg400Trp) single nucleotide variant Pathogenic rs28942095 GRCh37 Chromosome 1, 209961971: 209961971
7 IRF6 NC_000001.11: g.209782473_209799634del17162 deletion Pathogenic GRCh38 Chromosome 1, 209782473: 209799634
8 IRF6 NM_006147.3(IRF6): c.134G> A (p.Arg45Gln) single nucleotide variant Pathogenic rs121434229 GRCh37 Chromosome 1, 209974625: 209974625
9 IRF6 NM_006147.3(IRF6): c.1186C> T (p.Pro396Ser) single nucleotide variant Pathogenic rs121434230 GRCh37 Chromosome 1, 209961983: 209961983
10 IRF6 NM_006147.3(IRF6): c.1016G> T (p.Arg339Ile) single nucleotide variant Pathogenic rs121434231 GRCh37 Chromosome 1, 209963884: 209963884
11 ACTA1 NM_001100.3(ACTA1): c.49G> C (p.Gly17Arg) single nucleotide variant Pathogenic rs121909521 GRCh37 Chromosome 1, 229568814: 229568814
12 IRF6 NM_006147.3(IRF6): c.65T> C (p.Leu22Pro) single nucleotide variant Pathogenic rs387906967 GRCh37 Chromosome 1, 209974694: 209974694
13 IRF6 NM_006147.3(IRF6): c.145C> T (p.Gln49Ter) single nucleotide variant Pathogenic rs397515434 GRCh37 Chromosome 1, 209974614: 209974614
14 IRF6 NM_006147.3(IRF6): c.1199G> A (p.Arg400Gln) single nucleotide variant Pathogenic rs200166664 GRCh37 Chromosome 1, 209961970: 209961970
15 IRF6 NM_006147.3(IRF6): c.1210G> A (p.Glu404Lys) single nucleotide variant Pathogenic rs769068305 GRCh37 Chromosome 1, 209961959: 209961959
16 IRF6 NM_006147.3(IRF6): c.113T> C (p.Ile38Thr) single nucleotide variant Pathogenic rs1060499555 GRCh37 Chromosome 1, 209974646: 209974646

Copy number variations for Van Der Woude Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 26163 1 197500000 222100000 Microdeletion van der Woude syndrome
2 26164 1 197500000 222100000 Microdeletion IRF6 van der Woude syndrome

Expression for Van Der Woude Syndrome

Search GEO for disease gene expression data for Van Der Woude Syndrome.

Pathways for Van Der Woude Syndrome

GO Terms for Van Der Woude Syndrome

Sources for Van Der Woude Syndrome

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