VOWNKL
MCID: VHW001
MIFTS: 41

Vohwinkel Syndrome (VOWNKL)

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

Aliases & Classifications for Vohwinkel Syndrome

MalaCards integrated aliases for Vohwinkel Syndrome:

Name: Vohwinkel Syndrome 58 54 26 60 76 38 13 56
Mutilating Keratoderma 58 54 26 76 30 6 41
Keratoderma Hereditarium Mutilans 58 54 26 60 76
Khm 58 54 26 76
Deafness, Congenital, with Keratopachydermia and Constrictions of Fingers and Toes 58 54
Congenital Deafness with Keratopachydermia and Constrictions of Fingers and Toes 26 76
Vownkl 58 76
Palmoplantar Keratoderma Mutilans Vohwinkel 26
Keratoderma Hereditarium Mutilans; Khm 58
Mutilating Keratoderma Plus Deafness 60
Mutilating Keratoderma of Vohwinkel 60
Palmoplantar Keratoderma Mutilans 26
Ppk Mutilans and Deafness 60
Ppk Mutilans Vohwinkel 26

Characteristics:

Orphanet epidemiological data:

60
keratoderma hereditarium mutilans
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
allelic to deafness, autosomal recessive 1, , deafness, autosomal dominant 3, , keratoderma, palmoplantar, with deafness, , keratitis-ichthyosis-deafness syndrome, , hystrix-like ichthyosis with deafness, , bart-pumphrey syndrome,


HPO:

33
vohwinkel syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Vohwinkel Syndrome

NIH Rare Diseases : 54 Vohwinkel syndrome is an inherited condition that affects the skin. People with the "classic form" generally have honeycomb-patterned calluses on the palms of the hands and the soles of the feet (palmoplantar keratoses); constricting bands of tissue on the fingers and toes which can cause amputation; starfish-shaped, thickened skin on the tops of the fingers and knees; and hearing loss. A "variant form" of Vohwinkel syndrome has also been identified which is characterized by ichthyosis in addition to the classic skin abnormalities and is not associated with hearing loss. Classic Vohwinkel syndrome is caused by changes (mutations) in the GJB2 gene and the variant form is caused by mutations in the LOR gene. Both are inherited in an autosomal dominant manner. Although there is currently no cure for the condition, treatments are available to alleviate symptoms.

MalaCards based summary : Vohwinkel Syndrome, also known as mutilating keratoderma, is related to ainhum and ichthyosis. An important gene associated with Vohwinkel Syndrome is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways is Gap junction trafficking. Affiliated tissues include skin and spinal cord, and related phenotypes are sensorineural hearing impairment and amniotic constriction ring

Genetics Home Reference : 26 Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin.

UniProtKB/Swiss-Prot : 76 Vohwinkel syndrome: An autosomal dominant disease characterized by hyperkeratosis, constriction on fingers and toes and congenital deafness.

Wikipedia : 77 Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of... more...

Description from OMIM: 124500

Related Diseases for Vohwinkel Syndrome

Diseases in the Vohwinkel Syndrome family:

Vohwinkel Syndrome, Variant Form

Diseases related to Vohwinkel Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 ainhum 30.3 LOR GJB2
2 ichthyosis 29.8 TGM1 LOR GJB2
3 kid syndrome 29.8 GJB6 GJB2
4 vohwinkel syndrome, variant form 12.7
5 keratoderma, palmoplantar, with deafness 11.5
6 ichthyosis, congenital, autosomal recessive 2 10.0 TGM1 LOR
7 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 10.0
8 alopecia 10.0
9 mutism 10.0
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
11 ichthyosis vulgaris 10.0 TGM1 LOR
12 oculodentodigital dysplasia 10.0 LOR GJB2
13 palmoplantar keratosis 9.9 LOR GJB2
14 autosomal recessive congenital ichthyosis 9.9 LOR TGM1
15 deafness, autosomal dominant 24 9.8 GJB6 GJB2
16 knuckle pads 9.8 GJB6 GJB2
17 knuckle pads, leukonychia, and sensorineural deafness 9.8 GJB6 GJB2
18 deafness, x-linked 2 9.8 GJB6 GJB2
19 dfnb1 9.8 GJB6 GJB2
20 hodgkin's lymphoma, nodular sclerosis 9.8 GJB6 GJB2
21 congenital cytomegalovirus 9.8 GJB6 GJB2
22 deafness, autosomal recessive 23 9.8 GJB6 GJB2
23 deafness, autosomal recessive 1a 9.8 GJB6 GJB2
24 vestibular disease 9.8 GJB6 GJB2
25 deafness, autosomal recessive 16 9.8 GJB6 GJB2
26 deafness, autosomal dominant 2a 9.8 GJB6 GJB2
27 clouston syndrome 9.8 GJB6 GJB2
28 inner ear disease 9.8 GJB6 GJB2
29 auditory system disease 9.7 GJB6 GJB2
30 keratitis, hereditary 9.7 GJB6 GJB2
31 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.7 GJB6 GJB2
32 corneal disease 9.7 GJB6 GJB2
33 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.7 GJB6 GJB2
34 ectodermal dysplasia 9.6 GJB6 GJB2
35 nonsyndromic deafness 9.6 GJB6 GJB2
36 pseudoainhum 9.5 LOR GJB6 GJB2
37 erythrokeratodermia variabilis et progressiva 1 9.5 LOR GJB6 GJB2
38 sensorineural hearing loss 9.4 GJB6 GJB2
39 skin disease 9.2 TGM1 LOR GJB6 GJB2

Graphical network of the top 20 diseases related to Vohwinkel Syndrome:



Diseases related to Vohwinkel Syndrome

Symptoms & Phenotypes for Vohwinkel Syndrome

Human phenotypes related to Vohwinkel Syndrome:

60 33 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
2 amniotic constriction ring 60 33 hallmark (90%) Very frequent (99-80%) HP:0009775
3 autoamputation of digits 60 33 hallmark (90%) Very frequent (99-80%) HP:0007460
4 honeycomb palmoplantar keratoderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0007465
5 cognitive impairment 60 33 frequent (33%) Frequent (79-30%) HP:0100543
6 hypogonadotrophic hypogonadism 60 33 frequent (33%) Frequent (79-30%) HP:0000044
7 self-injurious behavior 60 33 occasional (7.5%) Occasional (29-5%) HP:0100716
8 ichthyosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0008064
9 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
10 alopecia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001596
11 osteolysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002797
12 papule 60 33 occasional (7.5%) Occasional (29-5%) HP:0200034
13 abnormal toenail morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0008388
14 abnormality of the spinal cord 60 33 occasional (7.5%) Occasional (29-5%) HP:0002143
15 hearing impairment 60 33 Occasional (29-5%) HP:0000365
16 abnormality of the nail 60 Occasional (29-5%)
17 hyperkeratosis 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
autoamputation of digits
papular keratoderma, mild
honeycomb keratoderma
starfish-like acral keratoses (knuckles)
pseudoainhum

Skeletal Hands:
circular constrictions of digits (pseudoainhum)
autoamputation

Head And Neck Ears:
hearing loss, mild to moderate

Clinical features from OMIM:

124500

Drugs & Therapeutics for Vohwinkel Syndrome

Search Clinical Trials , NIH Clinical Center for Vohwinkel Syndrome

Genetic Tests for Vohwinkel Syndrome

Genetic tests related to Vohwinkel Syndrome:

# Genetic test Affiliating Genes
1 Mutilating Keratoderma 30 GJB2

Anatomical Context for Vohwinkel Syndrome

MalaCards organs/tissues related to Vohwinkel Syndrome:

42
Skin, Spinal Cord

Publications for Vohwinkel Syndrome

Articles related to Vohwinkel Syndrome:

(show all 28)
# Title Authors Year
1
G59S mutation in the GJB2 gene in a Chinese family with classic Vohwinkel syndrome. ( 30565282 )
2019
2
Vohwinkel syndrome: ichthyosiform variant in a family. ( 30156625 )
2018
3
Low-dose isotretinoin prevents digital amputation in loricrin keratoderma (Vohwinkel syndrome with ichthyosis). ( 28591443 )
2017
4
Mutilating Keratoderma with Concomitant Alopecia and Keratoses Follicularis Spinulosa Decalvans: X-Linked Olmsted Syndrome and its Response to Isotretinoin. ( 29204395 )
2017
5
A Deletion Mutation of the Connexin 26 (Gjb2) Gene in a Turkish Patient with Vohwinkel Syndrome . ( 29485809 )
2016
6
Using a Distant Abdominal Skin Flap to Treat Digital Constriction Bands: A Case Report for Vohwinkel Syndrome. ( 26871826 )
2016
7
Vohwinkel syndrome, ichthyosiform variant - by Camisa - Case report. ( 24346921 )
2013
8
Vohwinkel syndrome with mental retardation. ( 23974601 )
2013
9
[Vohwinkel syndrome. Hearing loss and keratoderma on the hands and feet]. ( 23247752 )
2013
10
D66H mutation in GJB2 gene in a Chinese family with classical Vohwinkel syndrome. ( 22960825 )
2012
11
A new variant of Vohwinkel syndrome: a case report. ( 21426869 )
2011
12
A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome. ( 20854437 )
2011
13
Vohwinkel Syndrome secondary to missense mutation D66H in GJB2 gene (connexin 26) can include epileptic manifestations. ( 20031451 )
2010
14
Vohwinkel syndrome: treatment of pseudo-ainhum. ( 20465619 )
2010
15
Keratoderma hereditarium mutilans (Vohwinkel syndrome). ( 19282408 )
2009
16
De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma. ( 17953701 )
2008
17
Keratoderma hereditarium mutilans (Vohwinkel syndrome) in three siblings. ( 17459296 )
2006
18
Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis). ( 15102081 )
2004
19
Targeted epidermal expression of mutant Connexin 26(D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders. ( 12837696 )
2003
20
A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome. ( 12072018 )
2002
21
Keratoderma hereditarium mutilans (Vohwinkel syndrome): an unsolved surgical mystery. ( 11604631 )
2001
22
Transgenic mice expressing a mutant form of loricrin reveal the molecular basis of the skin diseases, Vohwinkel syndrome and progressive symmetric erythrokeratoderma. ( 11038186 )
2000
23
Surgical correction of pseudo-ainhum in Vohwinkel syndrome. ( 7561409 )
1995
24
Vohwinkel syndrome (mutilating keratoderma) associated with craniofacial anomalies. ( 8010352 )
1994
25
Mutilating keratoderma. ( 2940194 )
1986
26
Vohwinkel Syndrome. ( 28266412 )
1977
27
Mutilating keratoderma (Vohwinkel). ( 148003 )
1976
28
Mutilating keratoderma (a case report). ( 4658291 )
1972

Variations for Vohwinkel Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Vohwinkel Syndrome:

76
# Symbol AA change Variation ID SNP ID
1 GJB2 p.Asp66His VAR_008710 rs104894403
2 GJB2 p.Gly130Val VAR_069522

ClinVar genetic disease variations for Vohwinkel Syndrome:

6 (show top 50) (show all 102)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB2 NM_004004.5(GJB2): c.355G> A (p.Glu119Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs150529554 GRCh38 Chromosome 13, 20189227: 20189227
2 GJB2 NM_004004.5(GJB2): c.355G> A (p.Glu119Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs150529554 GRCh37 Chromosome 13, 20763366: 20763366
3 GJB2 NM_004004.5(GJB2): c.131G> A (p.Trp44Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894413 GRCh38 Chromosome 13, 20189451: 20189451
4 GJB2 NM_004004.5(GJB2): c.131G> A (p.Trp44Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894413 GRCh37 Chromosome 13, 20763590: 20763590
5 GJB2 NM_004004.5(GJB2): c.120A> C (p.Ala40=) single nucleotide variant Conflicting interpretations of pathogenicity rs561870637 GRCh37 Chromosome 13, 20763601: 20763601
6 GJB2 NM_004004.5(GJB2): c.120A> C (p.Ala40=) single nucleotide variant Conflicting interpretations of pathogenicity rs561870637 GRCh38 Chromosome 13, 20189462: 20189462
7 GJB2 NM_004004.5(GJB2): c.101T> C (p.Met34Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs35887622 GRCh37 Chromosome 13, 20763620: 20763620
8 GJB2 NM_004004.5(GJB2): c.101T> C (p.Met34Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs35887622 GRCh38 Chromosome 13, 20189481: 20189481
9 GJB2 NM_004004.6(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh37 Chromosome 13, 20763650: 20763650
10 GJB2 NM_004004.6(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh38 Chromosome 13, 20189511: 20189511
11 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
12 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh38 Chromosome 13, 20189547: 20189547
13 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh37 Chromosome 13, 20763582: 20763582
14 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh38 Chromosome 13, 20189443: 20189443
15 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh37 Chromosome 13, 20763294: 20763294
16 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh38 Chromosome 13, 20189155: 20189155
17 GJB2 NM_004004.5(GJB2): c.167delT (p.Leu56Argfs) deletion Pathogenic rs80338942 GRCh37 Chromosome 13, 20763554: 20763554
18 GJB2 NM_004004.5(GJB2): c.167delT (p.Leu56Argfs) deletion Pathogenic rs80338942 GRCh38 Chromosome 13, 20189415: 20189415
19 GJB2 NM_004004.5(GJB2): c.196G> C (p.Asp66His) single nucleotide variant Pathogenic rs104894403 GRCh37 Chromosome 13, 20763525: 20763525
20 GJB2 NM_004004.5(GJB2): c.196G> C (p.Asp66His) single nucleotide variant Pathogenic rs104894403 GRCh38 Chromosome 13, 20189386: 20189386
21 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
22 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338945 GRCh38 Chromosome 13, 20189313: 20189313
23 GJB2 NM_004004.5(GJB2): c.109G> A (p.Val37Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs72474224 GRCh37 Chromosome 13, 20763612: 20763612
24 GJB2 NM_004004.5(GJB2): c.109G> A (p.Val37Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs72474224 GRCh38 Chromosome 13, 20189473: 20189473
25 GJB2 NM_004004.5(GJB2): c.339T> G (p.Ser113Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs80338946 GRCh37 Chromosome 13, 20763382: 20763382
26 GJB2 NM_004004.5(GJB2): c.339T> G (p.Ser113Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs80338946 GRCh38 Chromosome 13, 20189243: 20189243
27 GJB2 NM_004004.5(GJB2): c.*84T> C single nucleotide variant Benign rs3751385 GRCh37 Chromosome 13, 20762956: 20762956
28 GJB2 NM_004004.5(GJB2): c.*84T> C single nucleotide variant Benign rs3751385 GRCh38 Chromosome 13, 20188817: 20188817
29 GJB2 NM_004004.5(GJB2): c.*111C> T single nucleotide variant Benign rs7329857 GRCh37 Chromosome 13, 20762929: 20762929
30 GJB2 NM_004004.5(GJB2): c.*111C> T single nucleotide variant Benign rs7329857 GRCh38 Chromosome 13, 20188790: 20188790
31 GJB2 NM_004004.5(GJB2): c.*1C> T single nucleotide variant Conflicting interpretations of pathogenicity rs111033327 GRCh37 Chromosome 13, 20763039: 20763039
32 GJB2 NM_004004.5(GJB2): c.*1C> T single nucleotide variant Conflicting interpretations of pathogenicity rs111033327 GRCh38 Chromosome 13, 20188900: 20188900
33 GJB2 NM_004004.5(GJB2): c.*3C> A single nucleotide variant Likely benign rs111033460 GRCh37 Chromosome 13, 20763037: 20763037
34 GJB2 NM_004004.5(GJB2): c.*3C> A single nucleotide variant Likely benign rs111033460 GRCh38 Chromosome 13, 20188898: 20188898
35 GJB2 NM_004004.5(GJB2): c.-22-12C> T single nucleotide variant Benign rs9578260 GRCh37 Chromosome 13, 20763754: 20763754
36 GJB2 NM_004004.5(GJB2): c.-22-12C> T single nucleotide variant Benign rs9578260 GRCh38 Chromosome 13, 20189615: 20189615
37 GJB2 NM_004004.5(GJB2): c.-45C> A single nucleotide variant Benign/Likely benign rs397516868 GRCh37 Chromosome 13, 20766944: 20766944
38 GJB2 NM_004004.5(GJB2): c.-45C> A single nucleotide variant Benign/Likely benign rs397516868 GRCh38 Chromosome 13, 20192805: 20192805
39 GJB2 NM_004004.5(GJB2): c.-6T> A single nucleotide variant Benign/Likely benign rs148136545 GRCh37 Chromosome 13, 20763726: 20763726
40 GJB2 NM_004004.5(GJB2): c.-6T> A single nucleotide variant Benign/Likely benign rs148136545 GRCh38 Chromosome 13, 20189587: 20189587
41 GJB2 NM_004004.5(GJB2): c.11G> A (p.Gly4Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs111033222 GRCh37 Chromosome 13, 20763710: 20763710
42 GJB2 NM_004004.5(GJB2): c.11G> A (p.Gly4Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs111033222 GRCh38 Chromosome 13, 20189571: 20189571
43 GJB2 NM_004004.5(GJB2): c.249C> G (p.Phe83Leu) single nucleotide variant Benign/Likely benign rs111033218 GRCh37 Chromosome 13, 20763472: 20763472
44 GJB2 NM_004004.5(GJB2): c.249C> G (p.Phe83Leu) single nucleotide variant Benign/Likely benign rs111033218 GRCh38 Chromosome 13, 20189333: 20189333
45 GJB2 NM_004004.5(GJB2): c.-15C> T single nucleotide variant Benign/Likely benign rs72561725 GRCh37 Chromosome 13, 20763735: 20763735
46 GJB2 NM_004004.5(GJB2): c.-15C> T single nucleotide variant Benign/Likely benign rs72561725 GRCh38 Chromosome 13, 20189596: 20189596
47 GJB2 NM_004004.5(GJB2): c.193T> C (p.Tyr65His) single nucleotide variant Pathogenic rs886037849 GRCh38 Chromosome 13, 20189389: 20189389
48 GJB2 NM_004004.5(GJB2): c.193T> C (p.Tyr65His) single nucleotide variant Pathogenic rs886037849 GRCh37 Chromosome 13, 20763528: 20763528
49 GJB2 NM_004004.5(GJB2): c.*1206T> G single nucleotide variant Uncertain significance rs886050026 GRCh38 Chromosome 13, 20187695: 20187695
50 GJB2 NM_004004.5(GJB2): c.*1206T> G single nucleotide variant Uncertain significance rs886050026 GRCh37 Chromosome 13, 20761834: 20761834

Expression for Vohwinkel Syndrome

Search GEO for disease gene expression data for Vohwinkel Syndrome.

Pathways for Vohwinkel Syndrome

Pathways related to Vohwinkel Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.61 GJB2 GJB6

GO Terms for Vohwinkel Syndrome

Cellular components related to Vohwinkel Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cornified envelope GO:0001533 9.16 LOR TGM1
2 gap junction GO:0005921 8.96 GJB2 GJB6
3 connexin complex GO:0005922 8.62 GJB2 GJB6

Biological processes related to Vohwinkel Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.46 LOR TGM1
2 aging GO:0007568 9.43 GJB2 GJB6
3 response to lipopolysaccharide GO:0032496 9.4 GJB2 GJB6
4 sensory perception of sound GO:0007605 9.37 GJB2 GJB6
5 cornification GO:0070268 9.32 LOR TGM1
6 keratinocyte differentiation GO:0030216 9.26 LOR TGM1
7 inner ear development GO:0048839 9.16 GJB2 GJB6
8 peptide cross-linking GO:0018149 8.96 LOR TGM1
9 cell communication GO:0007154 8.62 GJB2 GJB6

Sources for Vohwinkel Syndrome

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....