MCID: RBN002
MIFTS: 49

Robinow Syndrome malady

Categories: Rare diseases, Bone diseases, Fetal diseases, Reproductive diseases, Genetic diseases

Aliases & Classifications for Robinow Syndrome

Aliases & Descriptions for Robinow Syndrome:

Name: Robinow Syndrome 12 50 25 56 52 14
Acral Dysostosis with Facial and Genital Abnormalities 12 50 25 56
Fetal Face Syndrome 12 50 25 56
Robinow Dwarfism 12 50 25 56
Mesomelic Dwarfism-Small Genitalia Syndrome 25 56
Robinow-Silverman-Smith Syndrome 25 56
Robinow's Syndrome 25 29
Dysostosis Acral with Facial and Genital Abnormalities 50
Robinow Syndrome, Autosomal Dominant 42
Robinow-Silverman Syndrome 25

Characteristics:

Orphanet epidemiological data:

56
robinow syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060254
ICD10 33 Q87.1
MeSH 42 C562492
NCIt 47 C85048
SNOMED-CT 64 76520005
Orphanet 56 ORPHA97360
UMLS via Orphanet 70 C0265205
ICD10 via Orphanet 34 Q87.1
UMLS 69 C0265205

Summaries for Robinow Syndrome

NIH Rare Diseases : 50 robinow syndrome is a rare disorder that affects the bones as well as other parts of the body. two forms of robinow syndrome have been described: autosomal recessive robinow syndrome, and the milder autosomal dominant robinow syndrome. they are distinguished based on their modes of inheritance, symptoms, and severity. autosomal recessive robinow syndrome causes shortening of the long bones in the arms and legs; short fingers and toes; wedge-shaped spinal bones leading to kyphoscoliosis; fused or missing ribs; short stature; and distinctive facial features. other features may include underdeveloped genitalia; dental problems; kidney or heart defects; or delayed development. this form is caused by mutations in the ror2 gene.autosomal dominant robinow syndrome causes more mild, but similar, features. there are rarely spine and rib abnormalities, and short stature is less severe. a variant type of this form is additionally characterized by osteosclerosis. autosomal dominant robinow syndrome may be caused by a mutation in the wnt5a or dvl1 gene. in some cases, the underlying cause of robinow syndrome is unknown. management may include bracing or surgery for skeletal abnormalities and growth hormone to increase growth rate in affected children. last updated: 9/28/2015

MalaCards based summary : Robinow Syndrome, also known as acral dysostosis with facial and genital abnormalities, is related to robinow syndrome, autosomal recessive and robinow syndrome, autosomal dominant 2. An important gene associated with Robinow Syndrome is DVL3 (Dishevelled Segment Polarity Protein 3), and among its related pathways/superpathways are Signaling by GPCR and Nanog in Mammalian ESC Pluripotency. Affiliated tissues include bone, heart and kidney, and related phenotypes are growth/size/body region and cardiovascular system

Disease Ontology : 12 A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities.

Genetics Home Reference : 25 Robinow syndrome is a rare disorder that affects the development of many parts of the body, particularly the bones. Researchers have identified two major types of Robinow syndrome. The types are distinguished by the severity of their signs and symptoms and by their pattern of inheritance, autosomal recessive or autosomal dominant.

Wikipedia : 71 Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism,... more...

Related Diseases for Robinow Syndrome

Diseases in the Robinow Syndrome family:

Robinow Syndrome, Autosomal Dominant 2 Robinow Syndrome, Autosomal Dominant 1
Robinow Syndrome, Autosomal Recessive Autosomal Dominant Robinow Syndrome 3
Autosomal Dominant Robinow Syndrome Ror2-Related Robinow Syndrome
Robinow-Like Syndrome

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

(show all 34)
id Related Disease Score Top Affiliating Genes
1 robinow syndrome, autosomal recessive 12.3
2 robinow syndrome, autosomal dominant 2 12.2
3 robinow syndrome, autosomal dominant 1 12.2
4 autosomal dominant robinow syndrome 3 12.1
5 autosomal dominant robinow syndrome 12.0
6 ror2-related robinow syndrome 11.9
7 brachydactyly 10.1
8 best vitelliform macular dystrophy 10.1 DVL1 DVL3 ROR2 WNT5A
9 antisynthetase syndrome 10.0 CGA INSL3
10 critical congenital heart disease 10.0 GNRH1 IGF1
11 dwarfism 9.9
12 heart disease 9.9
13 tracheal lymphoma 9.9 INSL3 TWIST1
14 periodic fever, aphthous stomatitis, pharyngitis and adenitis 9.9 CGA GNRH1
15 epidural spinal canal meningioma 9.9 CGA GNRH1 IGF1
16 pinguecula 9.9 CGA GNRH1 IGF1
17 diabetes mellitus, insulin-resistant, with acanthosis nigricans 9.9 CGA GNRH1 INSL3
18 splenic disease 9.8 CGA INSL3 TWIST1
19 cockayne syndrome 9.7
20 cystic kidney disease 9.7
21 laryngitis 9.7
22 kidney disease 9.7
23 pfeiffer syndrome 9.7
24 growth hormone deficiency 9.7
25 cryptorchidism 9.7
26 split hand 9.7
27 vaginal atresia 9.7
28 inguinal hernia 9.7
29 respiratory failure 9.7
30 hyperostosis 9.7
31 vaginitis 9.7
32 multiple self-healing squamous epithelioma, susceptiblity to 9.6 LMBR1 MRRF ROR2 TWIST1
33 spondylocarpotarsal synostosis syndrome 9.6 DVL1 DVL2 DVL3 FZD1 ROR2 RYK
34 renal-hepatic-pancreatic dysplasia 8.1 CGA DVL1 DVL2 DVL3 FZD1 GNRH1

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



Diseases related to Robinow Syndrome

Symptoms & Phenotypes for Robinow Syndrome

MGI Mouse Phenotypes related to Robinow Syndrome:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.21 CGA DVL2 DVL3 FZD1 GNRH1 IGF1
2 cardiovascular system MP:0005385 10.18 DVL1 DVL2 DVL3 FZD1 IGF1 ROR2
3 craniofacial MP:0005382 10.11 FZD1 ROR2 RYK TWIST1 VANGL2 WNT5A
4 embryo MP:0005380 10.08 DVL1 DVL2 DVL3 FZD1 ROR2 TWIST1
5 endocrine/exocrine gland MP:0005379 10.06 CGA DVL3 FZD1 GNRH1 IGF1 INSL3
6 digestive/alimentary MP:0005381 10.04 RYK TWIST1 VANGL2 WNT5A FZD1 GNRH1
7 limbs/digits/tail MP:0005371 10.02 DVL2 DVL3 IGF1 LMBR1 ROR2 RYK
8 mortality/aging MP:0010768 10.02 DVL1 DVL2 DVL3 VANGL2 WNT5A IGF1
9 hearing/vestibular/ear MP:0005377 10.01 DVL1 DVL2 DVL3 FZD1 IGF1 ROR2
10 nervous system MP:0003631 10 CGA DVL1 DVL2 DVL3 FZD1 GNRH1
11 normal MP:0002873 9.76 DVL1 DVL2 FZD1 GNRH1 IGF1 LMBR1
12 reproductive system MP:0005389 9.56 CGA FZD1 GNRH1 IGF1 INSL3 ROR2
13 skeleton MP:0005390 9.44 GNRH1 IGF1 INSL3 LMBR1 ROR2 RYK

Drugs & Therapeutics for Robinow Syndrome

Search Clinical Trials , NIH Clinical Center for Robinow Syndrome

Cochrane evidence based reviews: robinow syndrome, autosomal dominant

Genetic Tests for Robinow Syndrome

Genetic tests related to Robinow Syndrome:

id Genetic test Affiliating Genes
1 Robinow Syndrome 29

Anatomical Context for Robinow Syndrome

MalaCards organs/tissues related to Robinow Syndrome:

39
Bone, Heart, Kidney, Testes, Brain

Publications for Robinow Syndrome

Articles related to Robinow Syndrome:

(show top 50) (show all 93)
id Title Authors Year
1
A novel de-novo WNT5A mutation in a Chinese patient with Robinow syndrome. ( 27092434 )
2016
2
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. ( 26924530 )
2016
3
Mutations in DVL1 Cause an Osteosclerotic Form of Robinow Syndrome. ( 25817014 )
2015
4
Robinow Syndrome: A Rare Case Report and Review of Literature. ( 26379386 )
2015
5
Robinow Syndrome: A Rare Diagnosis. ( 26816964 )
2015
6
Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations. ( 26284319 )
2015
7
DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome. ( 25817016 )
2015
8
Vertebral anomalies accompanying Robinow syndrome. ( 26674440 )
2015
9
Null and hypomorph Prickle1 alleles in mice phenocopy human Robinow syndrome and disrupt signaling downstream of Wnt5a. ( 25190059 )
2014
10
Respiratory failure in Robinow syndrome was treated with non-invasive mechanical ventilation for the first time. ( 25581697 )
2014
11
An osteosclerotic form of Robinow syndrome. ( 25045061 )
2014
12
Identification of novel ROR2 gene mutations in Indian children with Robinow syndrome. ( 24932600 )
2014
13
De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype. ( 24716670 )
2014
14
Prenatal diagnosis of robinow syndrome: A case report. ( 24151023 )
2013
15
Reply to Mazzeu: Human mutations in RYK might cause Robinow syndrome. ( 23472253 )
2013
16
RYK is not mutated in autosomal dominant Robinow syndrome. ( 23355721 )
2013
17
Wnt signalling in testicular descent: a candidate mechanism for cryptorchidism in Robinow syndrome. ( 23895974 )
2013
18
Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome. ( 22178368 )
2012
19
Bilateral conductive hearing impairment with hyperostosis of the temporal bone: a new finding in Robinow syndrome. ( 22431878 )
2012
20
Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B. ( 20962035 )
2011
21
Craniofacial and intraoral phenotype of Robinow syndrome forms. ( 21496006 )
2011
22
Robinow syndrome, Cockayne syndrome, and Pfeiffer syndrome: an overview of physical, neurological, and oral characteristics. ( 20129888 )
2010
23
WNT5A mutations in patients with autosomal dominant Robinow syndrome. ( 19918918 )
2010
24
Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome. ( 20095987 )
2010
25
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. ( 19640924 )
2009
26
Identification of an association between Robinow syndrome and moyamoya. ( 19258733 )
2009
27
A case report on autosomal recessive Robinow syndrome. ( 19761290 )
2009
28
Autosomal recessive Robinow syndrome: a case report. ( 18505648 )
2008
29
The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome. ( 18353862 )
2008
30
Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation. ( 18831060 )
2008
31
Robinow syndrome. ( 19753239 )
2008
32
Robinow syndrome: report of two cases and review of the literature. ( 17217496 )
2007
33
Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum. ( 17665217 )
2007
34
Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. ( 17256787 )
2007
35
Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome. ( 17603805 )
2007
36
Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome. ( 17061261 )
2006
37
Prenatal and postnatal findings in a case with the autosomal recessive type of Robinow syndrome. ( 16757917 )
2006
38
Robinow syndrome with variable neurologic features. ( 16418601 )
2006
39
Laryngeal mask airway and the Robinow syndrome. ( 16407809 )
2006
40
Robinow Syndrome: a case report. ( 16259327 )
2005
41
ER-associated protein degradation is a common mechanism underpinning numerous monogenic diseases including Robinow syndrome. ( 16049033 )
2005
42
Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome. ( 15952209 )
2005
43
Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome. ( 14745966 )
2004
44
Midline cleft of the lower lip associated with Robinow syndrome. ( 15841804 )
2004
45
Robinow syndrome. ( 14767093 )
2004
46
Anaesthetic implications of the child with Robinow syndrome. ( 12950866 )
2003
47
One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B. ( 12815588 )
2003
48
Anaesthetic implications of Robinow syndrome. ( 14535914 )
2003
49
Robinow syndrome. ( 12011143 )
2002
50
Robinow syndrome. ( 12082331 )
2002

Variations for Robinow Syndrome

ClinVar genetic disease variations for Robinow Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 WNT5A NM_003392.4(WNT5A): c.544T> C (p.Cys182Arg) single nucleotide variant Pathogenic rs387906663 GRCh37 Chromosome 3, 55508505: 55508505
2 WNT5A NM_003392.4(WNT5A): c.248G> C (p.Cys83Ser) single nucleotide variant Pathogenic rs786200925 GRCh38 Chromosome 3, 55479457: 55479457
3 WNT5A NM_003392.4(WNT5A): c.545G> C (p.Cys182Ser) single nucleotide variant Pathogenic rs869312850 GRCh38 Chromosome 3, 55474476: 55474476
4 WNT5A NM_003392.4(WNT5A): c.257A> G (p.Tyr86Cys) single nucleotide variant Pathogenic rs786204836 GRCh38 Chromosome 3, 55479448: 55479448
5 WNT5A NM_003392.4(WNT5A): c.206G> A (p.Cys69Tyr) single nucleotide variant Pathogenic rs786204837 GRCh38 Chromosome 3, 55479499: 55479499
6 DVL3 NM_004423.3(DVL3): c.1585delG (p.Ala529Profs) deletion Pathogenic rs869025215 GRCh37 Chromosome 3, 183887880: 183887880
7 DVL3 NM_004423.3(DVL3): c.1715-2A> G single nucleotide variant Pathogenic rs869025216 GRCh37 Chromosome 3, 183888105: 183888105
8 DVL3 NM_004423.3(DVL3): c.1715-1G> A single nucleotide variant Pathogenic rs869025217 GRCh37 Chromosome 3, 183888106: 183888106
9 DVL3 NM_004423.3(DVL3): c.1716delC (p.Ser573Valfs) deletion Pathogenic rs869025218 GRCh37 Chromosome 3, 183888108: 183888108
10 DVL3 NM_004423.3(DVL3): c.1749delC (p.Ser583Argfs) deletion Pathogenic rs869025219 GRCh37 Chromosome 3, 183888141: 183888141

Expression for Robinow Syndrome

Search GEO for disease gene expression data for Robinow Syndrome.

Pathways for Robinow Syndrome

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

(show all 27)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
14.05 CGA DVL1 DVL2 DVL3 FZD1 GNRH1
2
Show member pathways
13.18 DVL1 FZD1 GNRH1 IGF1 ROR2 RYK
3
Show member pathways
12.93 DVL1 DVL2 DVL3 FZD1 IGF1 WNT5A
4
Show member pathways
12.77 DVL1 DVL2 DVL3 FZD1 ROR2 RYK
5 12.58 DVL1 DVL2 DVL3 FZD1 IGF1 WNT5A
6
Show member pathways
12.42 DVL1 DVL2 DVL3 FZD1 IGF1 WNT5A
7
Show member pathways
12.41 DVL1 DVL2 DVL3 FZD1
8 12.34 DVL1 DVL2 DVL3 FZD1 WNT5A
9
Show member pathways
12.29 DVL1 DVL2 DVL3 FZD1 ROR2 WNT5A
10 12.21 FZD1 IGF1 TWIST1 WNT5A
11
Show member pathways
12.09 DVL1 FZD1 IGF1 WNT5A
12 12.08 DVL1 DVL2 DVL3 FZD1 WNT5A
13
Show member pathways
12.06 DVL1 DVL2 DVL3 FZD1 ROR2 RYK
14 12.03 DVL1 FZD1 WNT5A
15
Show member pathways
12.01 DVL1 DVL2 DVL3 FZD1 IGF1 WNT5A
16 11.99 DVL1 FZD1 IGF1 TWIST1
17 11.96 DVL1 FZD1 WNT5A
18 11.94 DVL1 DVL2 DVL3 FZD1 IGF1 WNT5A
19 11.92 DVL1 DVL2 DVL3 WNT5A
20 11.86 DVL1 DVL2 DVL3 TWIST1
21
Show member pathways
11.4 DVL1 DVL2 DVL3 FZD1 ROR2 VANGL2
22 11.38 DVL1 DVL2 DVL3 ROR2 RYK
23 11.18 FZD1 ROR2 RYK WNT5A
24 11.03 DVL1 DVL2 DVL3 ROR2 WNT5A
25
Show member pathways
10.9 DVL1 DVL2 DVL3
26 10.88 DVL2 FZD1
27 10.73 CGA GNRH1

GO Terms for Robinow Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 lateral plasma membrane GO:0016328 9.13 DVL1 DVL2 VANGL2
2 Wnt signalosome GO:1990909 8.8 DVL1 DVL3 FZD1

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

(show all 41)
id Name GO ID Score Top Affiliating Genes
1 Wnt signaling pathway GO:0016055 9.98 DVL1 DVL2 DVL3 FZD1 ROR2 RYK
2 negative regulation of canonical Wnt signaling pathway GO:0090090 9.97 DVL1 DVL2 DVL3 ROR2 WNT5A
3 cell-cell signaling GO:0007267 9.96 CGA FZD1 GNRH1 INSL3
4 positive regulation of protein phosphorylation GO:0001934 9.96 DVL1 DVL2 DVL3 FZD1 WNT5A
5 positive regulation of canonical Wnt signaling pathway GO:0090263 9.91 DVL1 DVL2 ROR2 WNT5A
6 neural tube closure GO:0001843 9.89 DVL2 TWIST1 VANGL2 WNT5A
7 embryonic digit morphogenesis GO:0042733 9.88 LMBR1 ROR2 TWIST1 WNT5A
8 protein stabilization GO:0050821 9.86 DVL1 DVL3 IGF1
9 neuron differentiation GO:0030182 9.85 FZD1 RYK WNT5A
10 axonogenesis GO:0007409 9.85 DVL1 RYK WNT5A
11 canonical Wnt signaling pathway GO:0060070 9.85 DVL1 DVL2 DVL3 FZD1 RYK WNT5A
12 positive regulation of epithelial cell proliferation GO:0050679 9.81 IGF1 TWIST1 WNT5A
13 positive regulation of JUN kinase activity GO:0043507 9.8 DVL2 DVL3 ROR2 VANGL2 WNT5A
14 beta-catenin destruction complex disassembly GO:1904886 9.78 DVL1 DVL2 DVL3 FZD1
15 regulation of cellular protein localization GO:1903827 9.72 DVL1 DVL3 WNT5A
16 cochlea morphogenesis GO:0090103 9.72 DVL1 DVL2 DVL3 VANGL2 WNT5A
17 Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation GO:1904953 9.71 FZD1 RYK WNT5A
18 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.7 DVL1 DVL2 DVL3 FZD1 ROR2 VANGL2
19 presynapse assembly GO:0099054 9.69 DVL1 FZD1 WNT5A
20 activation of protein kinase B activity GO:0032148 9.68 IGF1 WNT5A
21 post-anal tail morphogenesis GO:0036342 9.68 VANGL2 WNT5A
22 negative chemotaxis GO:0050919 9.67 RYK WNT5A
23 digestive tract morphogenesis GO:0048546 9.67 VANGL2 WNT5A
24 planar cell polarity pathway involved in axon guidance GO:1904938 9.67 RYK VANGL2 WNT5A
25 positive regulation of transcription regulatory region DNA binding GO:2000679 9.66 IGF1 TWIST1
26 establishment of planar polarity GO:0001736 9.65 VANGL2 WNT5A
27 midbrain dopaminergic neuron differentiation GO:1904948 9.65 RYK WNT5A
28 membranous septum morphogenesis GO:0003149 9.65 FZD1 VANGL2
29 negative regulation of axon extension involved in axon guidance GO:0048843 9.64 RYK WNT5A
30 muscular septum morphogenesis GO:0003150 9.63 FZD1 VANGL2
31 non-canonical Wnt signaling pathway via JNK cascade GO:0038031 9.63 DVL3 WNT5A
32 convergent extension involved in neural plate elongation GO:0022007 9.63 DVL1 DVL2 VANGL2
33 positive regulation of protein kinase C activity GO:1900020 9.62 ROR2 WNT5A
34 convergent extension involved in axis elongation GO:0060028 9.62 VANGL2 WNT5A
35 planar cell polarity pathway involved in axis elongation GO:0003402 9.61 VANGL2 WNT5A
36 chemorepulsion of dopaminergic neuron axon GO:0036518 9.6 RYK WNT5A
37 convergent extension involved in organogenesis GO:0060029 9.56 DVL1 DVL2 VANGL2 WNT5A
38 non-canonical Wnt signaling pathway GO:0035567 9.35 DVL2 DVL3 RYK VANGL2 WNT5A
39 planar cell polarity pathway involved in neural tube closure GO:0090179 9.1 DVL1 DVL2 DVL3 FZD1 VANGL2 WNT5A
40 multicellular organism development GO:0007275 10.18 DVL1 DVL2 DVL3 FZD1 GNRH1 ROR2
41 positive regulation of transcription, DNA-templated GO:0045893 10.11 DVL1 DVL2 DVL3 FZD1 IGF1 ROR2

Molecular functions related to Robinow Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 receptor binding GO:0005102 9.71 DVL3 FZD1 INSL3 WNT5A
2 Rac GTPase binding GO:0048365 9.43 DVL1 DVL2 DVL3
3 Wnt-activated receptor activity GO:0042813 9.37 FZD1 RYK
4 Wnt-protein binding GO:0017147 9.33 FZD1 ROR2 RYK
5 coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway GO:1904929 9.32 ROR2 RYK
6 hormone activity GO:0005179 9.26 CGA GNRH1 IGF1 INSL3
7 frizzled binding GO:0005109 9.17 DVL1 DVL2 DVL3 FZD1 ROR2 RYK

Sources for Robinow Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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