MCID: PLM029
MIFTS: 47

Palmoplantar Keratosis

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Palmoplantar Keratosis

MalaCards integrated aliases for Palmoplantar Keratosis:

Name: Palmoplantar Keratosis 12 15 17 71
Palmoplantar Keratoderma 12 74 52 36 29 6
Keratoderma, Palmoplantar, Diffuse 71
Keratosis Palmaris Et Plantaris 12
Palmo-Plantar Keratodermas 12
Keratoderma, Palmoplantar 52
Keratoderma Palmoplantar 54

Classifications:



External Ids:

Disease Ontology 12 DOID:3390
KEGG 36 H01673
ICD10 32 L85.2
UMLS 71 C0022584 C0022596

Summaries for Palmoplantar Keratosis

NIH Rare Diseases : 52 Palmoplantar keratoderma (PPK) is a group of skin conditions characterized by thickening of the skin on the palms of the hands and soles of the feet. PPK can also be a feature of various underlying syndromes . In rare forms of PPK, organs other than the skin may also be affected. PPK can be either acquired during the lifetime (more commonly) or inherited . Acquired PPKs may arise due to changes in a person's health or environment. Inherited PPKs are caused by genetic mutations that result in abnormalities of keratin , a skin protein . Depending on the genetic cause, inheritance can be autosomal dominant or autosomal recessive . Treatment is aimed at softening the thickened skin to make it less noticeable and relieve discomfort.

MalaCards based summary : Palmoplantar Keratosis, also known as palmoplantar keratoderma, is related to palmoplantar keratoderma and congenital alopecia 1 and palmoplantar keratoderma, nonepidermolytic, focal 1. An important gene associated with Palmoplantar Keratosis is KRT9 (Keratin 9), and among its related pathways/superpathways are Developmental Biology and Cytoskeletal Signaling. The drug Acitretin has been mentioned in the context of this disorder. Affiliated tissues include skin, heart and t cells, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A keratosis characterized by abnormal thickening of the palms and the soles.

KEGG : 36 Palmoplantar keratodermas (PPK) comprise a heterogeneous group of keratinization disorders with hyperkeratotic thickening of palms and soles. Sporadic or acquired forms of PPKs and hereditary forms exist. The causes of acquired PPK vary, and include exposure to certain chemicals, side effects of certain drugs, and metabolic disorders. There is as yet no cure for hereditary PPK. In patients with acquired PPK, the cause should be treated or eliminated, if possible. In both instances, optimized treatment can lead to a significant improvement in symptoms. Topical therapy with urea-based ointments improves the skin's absorption of moisture and has keratolytic effects. Topical vitamin D therapy is another option.

Wikipedia : 74 Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of... more...

Related Diseases for Palmoplantar Keratosis

Diseases related to Palmoplantar Keratosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 409)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma and congenital alopecia 1 35.1 GJB3 GJB2 GJA1
2 palmoplantar keratoderma, nonepidermolytic, focal 1 35.1 SLURP1 KRT9 KRT16 KRT1
3 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 35.1 DSP DSG1
4 palmoplantar keratoderma, bothnian type 35.1 KRT9 KRT17 KRT16 KRT1
5 palmoplantar keratoderma and woolly hair 35.1 JUP DSP
6 palmoplantar keratoderma, nonepidermolytic, focal or diffuse 35.1 KRT17 KRT16
7 hereditary palmoplantar keratoderma 34.8 KRT9 DSG1
8 keratoderma, palmoplantar, with deafness 34.7 GJB3 GJB2 GJA1
9 striate palmoplantar keratoderma 34.6 SERPINB7 KRT10 KRT1 DSP DSG1 CTSC
10 focal palmoplantar keratoderma 34.4 KRT17 KRT16 GJB2 DSG1
11 arrhythmogenic right ventricular dysplasia, familial, 11 34.3 PKP2 JUP
12 cardiomyopathy, dilated, with woolly hair and keratoderma 34.2 PKP2 JUP GJA1 DSP DSG1
13 erythrokeratodermia variabilis et progressiva 1 33.8 LORICRIN KRT1 GJB3 GJB2 GJA1
14 ichthyosis hystrix, curth-macklin type 33.7 KRT5 KRT1
15 keratitis-ichthyosis-deafness syndrome, autosomal dominant 33.1 GJB2 GJA1
16 erythroderma, ichthyosiform, congenital reticular 33.0 KRT10 KRT1
17 pachyonychia congenita 1 32.9 LORICRIN KRT9 KRT5 KRT17 KRT16 KRT10
18 punctate palmoplantar keratoderma 32.8 SERPINB7 GJB2 AAGAB
19 ectodermal dysplasia/skin fragility syndrome 32.8 JUP DSP
20 pachyonychia congenita 2 32.8 KRT17 KRT16
21 vohwinkel syndrome 32.7 LORICRIN GJB3 GJB2
22 palmoplantar keratoderma, epidermolytic 32.2 LORICRIN KRT9 KRT5 KRT17 KRT16 KRT10
23 palmoplantar keratoderma, nonepidermolytic 32.2 PKP2 KRT16 KRT1 JUP GJA1 DSP
24 alopecia 31.7 SASH1 GJA1 DSP
25 knuckle pads 31.7 KRT9 GJB3 GJB2 GJA1
26 ainhum 31.5 LORICRIN GJB2
27 bart-pumphrey syndrome 31.3 GJB3 GJB2 GJA1
28 pemphigus 31.3 JUP DSP DSG1
29 arrhythmogenic right ventricular cardiomyopathy 31.3 PKP2 JUP GJA1 DSP
30 clouston syndrome 31.2 GJB3 GJB2 GJA1
31 deafness, autosomal dominant 3a 31.2 GJB3 GJB2
32 autosomal recessive non-syndromic sensorineural deafness type dfnb 31.2 GJB3 GJB2 GJA1
33 lichen planus 31.1 KRT16 KRT10 KRT1 DSG1
34 hypotrichosis 31.1 KRT5 GJB3 GJB2 GJA1 DSG1 CTSC
35 darier-white disease 31.1 JUP DSP DSG1
36 pseudoainhum 31.1 LORICRIN GJB3 GJB2 GJA1
37 atrial standstill 1 31.1 PKP2 JUP DSP
38 ichthyosis vulgaris 31.1 LORICRIN KRT10 KRT1
39 bullous pemphigoid 31.1 KRT5 DSP DSG1
40 epidermolysis bullosa 31.1 LORICRIN KRT5 KRT17 KRT16 KRT10 KRT1
41 keratinopathic ichthyosis 31.0 KRT10 KRT1
42 nonsyndromic hearing loss and deafness, dfnb1 31.0 GJB3 GJB2
43 epidermolysis bullosa, lethal acantholytic 31.0 JUP DSP
44 acrokeratoderma, hereditary papulotranslucent 31.0 KRT9 KRT1 GJB2
45 erythrokeratoderma 31.0 LORICRIN GJB3 GJB2 GJA1
46 bowen's disease 31.0 KRT16 KRT10
47 epidermolysis bullosa simplex with mottled pigmentation 30.9 KRT5 KRT10 DSP
48 epidermolysis bullosa simplex 30.9 LORICRIN KRT5 KRT17 KRT16 KRT10 KRT1
49 pemphigus vulgaris, familial 30.9 JUP DSP DSG1
50 arrhythmogenic right ventricular dysplasia, familial, 8 30.9 PKP2 JUP DSP

Graphical network of the top 20 diseases related to Palmoplantar Keratosis:



Diseases related to Palmoplantar Keratosis

Symptoms & Phenotypes for Palmoplantar Keratosis

GenomeRNAi Phenotypes related to Palmoplantar Keratosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.4 GJA1 SASH1
2 Decreased viability GR00249-S 9.4 CTSC KRT10
3 Decreased viability GR00386-A-1 9.4 KRT10 KRT9 LORICRIN SERPINB7
4 Decreased viability GR00402-S-2 9.4 CTSC DSP GJB2 KRT16

MGI Mouse Phenotypes related to Palmoplantar Keratosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.77 CTSC DSG1 DSP GJA1 GJB2 GJB3
2 integument MP:0010771 9.4 CTSC DSG1 DSP GJA1 GJB2 GJB3

Drugs & Therapeutics for Palmoplantar Keratosis

Drugs for Palmoplantar Keratosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acitretin Approved 55079-83-9, 69427-46-9 6437841

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Role of SLURP-1 in Melanoma and Melanoma Stem Cells Unknown status NCT01281722
2 The Evaluation of Oral Acitretin in the Treatment of Psoriasis, Cutaneous Disorders of Keratinization, Multiple Basal Cell Carcinomas and Other Retinoid Responsive Diseases Completed NCT00005660
3 Telangiectatic Palmoplantar Keratoderma in Systemic and Subacute Lupus Erythematosus : to a Form of Lichen Planus-like Lupus Erythematosus ? Active, not recruiting NCT04356014

Search NIH Clinical Center for Palmoplantar Keratosis

Genetic Tests for Palmoplantar Keratosis

Genetic tests related to Palmoplantar Keratosis:

# Genetic test Affiliating Genes
1 Palmoplantar Keratoderma 29

Anatomical Context for Palmoplantar Keratosis

MalaCards organs/tissues related to Palmoplantar Keratosis:

40
Skin, Heart, T Cells, Lung, Tongue, Bone, Colon

Publications for Palmoplantar Keratosis

Articles related to Palmoplantar Keratosis:

(show top 50) (show all 1183)
# Title Authors PMID Year
1
Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30. 54 61
20096356 2010
2
Connexin-26 mutations in deafness and skin disease. 61 54
19939300 2009
3
Expression of SLURP-1, an endogenous alpha7 nicotinic acetylcholine receptor allosteric ligand, in murine bronchial epithelial cells. 61 54
19396877 2009
4
Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation. 61 54
19443303 2009
5
Novel mutations in DSG1 causing striate palmoplantar keratoderma. 54 61
19018793 2009
6
New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma. 54 61
18688874 2009
7
A de novo GJB2 (connexin 26) mutation, R75W, in a Chinese pedigree with hearing loss and palmoplantar keratoderma. 61 54
18924167 2009
8
Novel and recurrent mutations in the 1B domain of keratin 1 in palmoplantar keratoderma with tonotubules. 61 54
18795921 2009
9
Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. 54 61
18957847 2009
10
A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. 61 54
18787097 2008
11
A novel c.545-546insG mutation in the loricrin gene correlates with a heterogeneous phenotype of loricrin keratoderma. 54 61
18844868 2008
12
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. 61 54
17993581 2008
13
Perturbed desmosomal cadherin expression in grainy head-like 1-null mice. 61 54
18288204 2008
14
Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease. 54 61
18089569 2008
15
A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads. 61 54
17255958 2007
16
Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis. 54 61
17255957 2007
17
Case report of a Spanish patient with arrhythmogenic right ventricular cardiomyopathy and palmoplantar keratoderma without plakoglobin and desmoplakin gene modifications. 54 61
17045679 2007
18
[Pathological features and gene mutation analysis in two pedigrees of diffuse palmoplantar keratoderma]. 61 54
17369150 2007
19
SLURP1 is a late marker of epidermal differentiation and is absent in Mal de Meleda. 54 61
17008884 2007
20
Arrhythmogenic right ventricular dysplasia, a cell adhesion cardiomyopathy: insights into disease pathogenesis from preliminary genotype--phenotype assessment. 54 61
16698823 2006
21
[Desmoglein, the target molecule in autoimmunity and infection]. 61 54
17075192 2006
22
Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin. 61 54
16628197 2006
23
Arrhythmogenic right ventricular cardiomyopathy/dysplasia: is there a role for viruses? 54 61
16414451 2006
24
Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region. 54 61
16865292 2006
25
Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature. 61 54
16403113 2006
26
A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type. 61 54
16417221 2006
27
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. 54 61
16175511 2005
28
The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. 54 61
16059934 2005
29
Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1. 61 54
15897387 2005
30
An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22. 54 61
15668823 2005
31
A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma. 61 54
15551259 2005
32
Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene. 54 61
15214894 2004
33
Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. 54 61
15140211 2004
34
Striate palmoplantar keratoderma arising from desmoplakin and desmoglein 1 mutations is associated with contrasting perturbations of desmosomes and the keratin filament network. 61 54
15149499 2004
35
The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis. 54 61
14974080 2004
36
A recurrent mutation in the ARS (component B) gene encoding SLURP-1 in Turkish families with mal de Meleda: evidence of a founder effect. 61 54
12787122 2003
37
Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda. 61 54
12603845 2003
38
Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. 61 54
12373648 2002
39
Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1. 54 61
12406346 2002
40
New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin C. 54 61
12207605 2002
41
Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patients. 61 54
12234709 2002
42
Epidermolytic palmoplantar keratoderma of Vörner: re-evaluation of Vörner's original family and identification of a novel keratin 9 mutation. 61 54
12192490 2002
43
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. 54 61
11912510 2002
44
Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. 54 61
11982762 2002
45
Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. 61 54
11841538 2002
46
Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. 61 54
11691526 2001
47
Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression. 54 61
11558869 2001
48
Desmosomes: structure and function in normal and diseased epidermis. 61 54
11476106 2001
49
trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation. 61 54
11493646 2001
50
Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds. 61 54
11286630 2001

Variations for Palmoplantar Keratosis

ClinVar genetic disease variations for Palmoplantar Keratosis:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KRT9 NM_000226.4(KRT9):c.487C>T (p.Arg163Trp)SNV Pathogenic/Likely pathogenic 2997 rs59616921 17:39727758-39727758 17:41571506-41571506
2 SASH1 NM_015278.5(SASH1):c.1849G>A (p.Glu617Lys)SNV Pathogenic/Likely pathogenic 156162 rs587781245 6:148855021-148855021 6:148533885-148533885
3 AAGAB NM_024666.5(AAGAB):c.451+1G>TSNV Likely pathogenic 374029 rs1057518846 15:67528316-67528316 15:67235978-67235978
4 WNT10A NM_025216.3(WNT10A):c.667C>T (p.Arg223Cys)SNV Uncertain significance 373902 rs149245953 2:219754996-219754996 2:218890274-218890274

Expression for Palmoplantar Keratosis

Search GEO for disease gene expression data for Palmoplantar Keratosis.

Pathways for Palmoplantar Keratosis

Pathways related to Palmoplantar Keratosis according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.11 PKP2 LORICRIN KRT9 KRT5 KRT17 KRT16
2 12.25 KRT5 KRT17 KRT10 JUP GJA1
3
Show member pathways
11.89 PKP2 JUP GJA1 DSP
4
Show member pathways
11.82 PKP2 LORICRIN KRT9 KRT5 KRT17 KRT16
5 11.78 JUP GJA1 DSP
6
Show member pathways
11.66 GJB3 GJB2 GJA1
7 11.64 KRT9 KRT17 KRT16 KRT10 DSG1
8 11.62 KRT1 JUP GJA1
9
Show member pathways
11.47 PKP2 KRT5 KRT17 KRT16 KRT1 DSP
10 11.36 JUP GJA1 DSP
11 11 JUP GJA1 DSP
12
Show member pathways
10.41 GJB2 GJA1

GO Terms for Palmoplantar Keratosis

Cellular components related to Palmoplantar Keratosis according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.36 SERPINB7 SASH1 PKP2 LORICRIN KRT5 KRT17
2 cytosol GO:0005829 10.3 TAT LORICRIN KRT9 KRT5 KRT17 KRT16
3 extracellular exosome GO:0070062 10.13 SLURP1 KRT9 KRT5 KRT16 KRT10 KRT1
4 cell junction GO:0030054 10 PKP2 JUP GJB3 GJB2 GJA1 DSP
5 cell-cell junction GO:0005911 9.77 PKP2 JUP GJB3 DSP DSG1
6 lateral plasma membrane GO:0016328 9.67 JUP GJB2 DSG1
7 gap junction GO:0005921 9.61 GJB3 GJB2 GJA1
8 intermediate filament GO:0005882 9.61 PKP2 KRT9 KRT5 KRT17 KRT16 KRT10
9 connexin complex GO:0005922 9.58 GJB3 GJB2 GJA1
10 intercalated disc GO:0014704 9.56 PKP2 JUP GJA1 DSP
11 fascia adherens GO:0005916 9.5 JUP GJA1 DSP
12 desmosome GO:0030057 9.46 PKP2 JUP DSP DSG1
13 cornified envelope GO:0001533 9.17 PKP2 LORICRIN KRT10 KRT1 JUP DSP

Biological processes related to Palmoplantar Keratosis according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.97 KRT1 JUP DSP DSG1 CTSC
2 cell-cell adhesion GO:0098609 9.83 PKP2 JUP DSP DSG1
3 epidermis development GO:0008544 9.77 KRT9 KRT5 DSP
4 keratinocyte differentiation GO:0030216 9.71 LORICRIN KRT16 KRT10 DSP
5 cornification GO:0070268 9.7 PKP2 LORICRIN KRT9 KRT5 KRT17 KRT16
6 cell communication GO:0007154 9.67 GJB3 GJB2 GJA1
7 regulation of heart rate by cardiac conduction GO:0086091 9.63 PKP2 JUP DSP
8 skin development GO:0043588 9.62 KRT9 JUP GJB3 DSP
9 intermediate filament organization GO:0045109 9.61 KRT9 KRT17 DSP
10 protein heterotetramerization GO:0051290 9.58 KRT10 KRT1
11 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.58 PKP2 GJA1
12 gap junction assembly GO:0016264 9.56 GJB2 GJA1
13 cell communication by electrical coupling GO:0010644 9.55 GJB2 GJA1
14 desmosome organization GO:0002934 9.54 PKP2 DSP
15 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.54 PKP2 JUP DSP
16 epididymis development GO:1905867 9.51 GJB2 GJA1
17 desmosome assembly GO:0002159 9.48 PKP2 JUP
18 peptide cross-linking GO:0018149 9.46 LORICRIN KRT10 KRT1 DSP
19 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.43 PKP2 JUP DSP
20 keratinization GO:0031424 9.36 PKP2 LORICRIN KRT9 KRT5 KRT17 KRT16

Molecular functions related to Palmoplantar Keratosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.55 LORICRIN KRT9 KRT5 KRT16 DSP
2 gap junction channel activity GO:0005243 9.5 GJB3 GJB2 GJA1
3 structural constituent of epidermis GO:0030280 9.43 LORICRIN KRT10 KRT1
4 alpha-catenin binding GO:0045294 9.4 PKP2 JUP
5 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 9.37 GJB2 GJA1
6 structural molecule activity GO:0005198 9.17 LORICRIN KRT9 KRT17 KRT16 KRT10 JUP
7 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.13 PKP2 JUP DSP

Sources for Palmoplantar Keratosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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