WWS
MCID: WLK001
MIFTS: 52

Walker-Warburg Syndrome (WWS) malady

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Fetal diseases, Muscle diseases

Aliases & Classifications for Walker-Warburg Syndrome

Aliases & Descriptions for Walker-Warburg Syndrome:

Name: Walker-Warburg Syndrome 12 50 24 25 56 52 14
Hard Syndrome 12 50 25 56
Walker-Warburg Congenital Muscular Dystrophy 25 29 69
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome 12 25
Hard +/- E Syndrome 50 24
Chemke Syndrome 50 25
Cod-Md Syndrome 50 25
Wws 24 56
Muscular Dystrophy-Dystroglycanopathy [with Brain and Eye Anomalies], Type a 25
Cerebroocular Dysplasia Muscular Dystrophy Syndrome 50
Muscular Dystrophy-Dystroglycanopathy , Type a 25
Hydrocephalus-Agyria-Retinal Dysplasia Syndrome 56
Hydrocephalus, Agyria, and Retinal Dysplasia 25
Hydrocephalus, Agyria and Retinal Dysplasia 50
Cerebroocular Dysgenesis 50
Warburg Syndrome 50
Pagon Syndrome 50
Mddga 25

Characteristics:

Orphanet epidemiological data:

56
walker-warburg syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/1000000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0050560
Orphanet 56 ORPHA899
MESH via Orphanet 43 D058494
ICD10 via Orphanet 34 Q04.3

Summaries for Walker-Warburg Syndrome

NIH Rare Diseases : 50 walker-warburg syndrome (wws) is a severe form of congenital muscular dystrophy associated with brain and eye abnormalities. signs and symptoms are typically present at birth and include hypotonia, muscle weakness, developmental delay, intellectual disability and occasional seizures. it is also associated with lissencephaly, hydrocephalus, cerebellar malformations, eye abnormalities, and other abnormalities. most children do not survive beyond the age of three years. it may be caused by mutations in any of several genes including the pomt1, pomt2 and fkrp genes, although in many individuals the genetic cause is unknown. wws is inherited in an autosomal recessive manner. no specific treatment is available; management is generally supportive and preventive. last updated: 3/23/2011

MalaCards based summary : Walker-Warburg Syndrome, also known as hard syndrome, is related to muscular dystrophy-dystroglycanopathy , type a, 9 and muscular dystrophy-dystroglycanopathy , type c, 1, and has symptoms including seizures An important gene associated with Walker-Warburg Syndrome is FKTN (Fukutin), and among its related pathways/superpathways are Metabolism and Metabolism of proteins. Affiliated tissues include brain, eye and skeletal muscle, and related phenotypes are cellular and behavior/neurological

Genetics Home Reference : 25 Walker-Warburg syndrome is an inherited disorder that affects development of the muscles, brain, and eyes. It is the most severe of a group of genetic conditions known as congenital muscular dystrophies, which cause muscle weakness and wasting (atrophy) beginning very early in life. The signs and symptoms of Walker-Warburg syndrome are present at birth or in early infancy. Because of the severity of the problems caused by Walker-Warburg syndrome, most affected individuals do not survive past age 3.

Wikipedia : 71 Walker–Warburg syndrome (WWS), also called Warburg syndrome, Chemke syndrome, HARD syndrome... more...

Related Diseases for Walker-Warburg Syndrome

Diseases related to Walker-Warburg Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 94)
id Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 9 33.1 DAG1 GMPPB ISPD
2 muscular dystrophy-dystroglycanopathy , type c, 1 32.1 FKRP FKTN POMT1
3 muscular dystrophy-dystroglycanopathy , type a, 1 11.9
4 palmer pagon syndrome 11.9
5 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 11 11.8
6 muscular dystrophy-dystroglycanopathy , type a, 13 11.7
7 muscular dystrophy-dystroglycanopathy , type a, 10 11.7
8 muscular dystrophy-dystroglycanopathy , type a, 2 11.7
9 muscular dystrophy-dystroglycanopathy , type a, 5 11.7
10 muscular dystrophy-dystroglycanopathy , type a, 3 11.7
11 muscular dystrophy-dystroglycanopathy , type a, 6 11.7
12 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 8 11.7
13 muscular dystrophy-dystroglycanopathy , type a, 7 11.7
14 muscular dystrophy-dystroglycanopathy , type a, 12 11.7
15 muscular dystrophy-dystroglycanopathy , type a, 4 11.7
16 muscular dystrophy-dystroglycanopathy , type a, 14 11.6
17 lissencephaly 11.4
18 cerebellar hypoplasia 11.1
19 muscular dystrophy, congenital, merosin-positive 11.1
20 muscular dystrophy-dystroglycanopathy , type b, 1 11.1
21 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 14 11.0
22 fkrp-related muscle diseases 11.0
23 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 10 11.0
24 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 12 11.0
25 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 13 11.0
26 congenital muscular alpha-dystroglycanopathy with brain and eye anomalies 10.8
27 muscular dystrophy 10.5
28 intrauterine growth retardation - mandibular malar hypoplasia 10.4 FKRP FKTN
29 nephronophthisis 2, infantile 10.3 FKRP FKTN POMT2
30 epileptic encephalopathy, early infantile, 4 10.3 GMPPB POMT1 POMT2
31 dementia, frontotemporal 10.3 GMPPB POMT1 POMT2
32 muscular dystrophy-dystroglycanopathy , type b, 14 10.3 GMPPB ISPD
33 systemic epstein-barr virus-positive t-cell lymphoproliferative disease of childhood 10.3 FKRP FKTN ISPD POMT1
34 deafness, autosomal recessive 18b 10.3 FKRP FKTN POMT1 POMT2
35 rheumatoid arthritis, systemic juvenile 10.3 GMPPB ISPD
36 orofacial cleft 13 10.3 GMPPB POMGNT1
37 eif2b1-related childhood ataxia with central nervous system hypomyelination/vanishing white matter 10.3 DMD SGCA
38 charcot-marie-tooth disease, type 2b2 10.3 FKRP LAMA2 POMGNT2
39 cardiomyopathy, familial restrictive, 3 10.3 DAG1 DMD LAMA2
40 pancreatic agenesis 1 10.3 DAG1 DMD SGCA
41 hydrocephalus 10.3
42 lipodystrophy, familial partial, 2 10.3 DAG1 DMD LAMA2
43 asthma-related traits 6 10.2 FKRP SGCA
44 myopathy, distal, with anterior tibial onset 10.2 DMD FKRP SGCA
45 sdhc-related paraganglioma and gastric stromal sarcoma 10.2 DAG1 DMD SGCA
46 autosomal recessive nonsyndromic deafness 47 10.2 DAG1 DMD FKTN LAMA2
47 coronary artery disease 10.2 FKRP FKTN LARGE1 POMGNT1 POMT1
48 short-rib thoracic dysplasia 8 with or without polydactyly 10.2 FKRP GMPPB
49 prosthetic joint infection 10.2 DMD FKRP POMT2 SGCA
50 autosomal recessive limb-girdle muscular dystrophy type 2h 10.2 DMD FKRP POMT1 SGCA

Graphical network of the top 20 diseases related to Walker-Warburg Syndrome:



Diseases related to Walker-Warburg Syndrome

Symptoms & Phenotypes for Walker-Warburg Syndrome

UMLS symptoms related to Walker-Warburg Syndrome:


seizures

MGI Mouse Phenotypes related to Walker-Warburg Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.28 POMGNT2 POMK POMT2 B3GNT2 B4GAT1 COL4A1
2 behavior/neurological MP:0005386 10.23 B3GNT2 B4GAT1 COL4A1 POMK DAG1 DMD
3 growth/size/body region MP:0005378 10.22 B3GNT2 COL4A1 DAG1 DMD FKRP FKTN
4 homeostasis/metabolism MP:0005376 10.15 B4GAT1 COL4A1 DAG1 DMD FKRP FKTN
5 mortality/aging MP:0010768 10.1 B4GAT1 COL4A1 DAG1 DMD FKRP FKTN
6 immune system MP:0005387 10.02 B4GAT1 DMD FKRP FKTN LAMA2 LAMB2
7 muscle MP:0005369 9.9 B4GAT1 COL4A1 DAG1 DMD FKRP FKTN
8 nervous system MP:0003631 9.83 LAMA2 LAMB2 LARGE1 POMGNT1 POMGNT2 POMK
9 vision/eye MP:0005391 9.17 COL4A1 DAG1 DMD FKRP LAMB2 LARGE1

Drugs & Therapeutics for Walker-Warburg Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
1 MRI on Persons With Mutations in POMT2 Gene (LGMD2N) Completed NCT02759302
2 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Walker-Warburg Syndrome

Genetic Tests for Walker-Warburg Syndrome

Genetic tests related to Walker-Warburg Syndrome:

id Genetic test Affiliating Genes
1 Walker-Warburg Congenital Muscular Dystrophy 29
2 Walker-Warburg Syndrome 24

Anatomical Context for Walker-Warburg Syndrome

MalaCards organs/tissues related to Walker-Warburg Syndrome:

39
Brain, Eye, Skeletal Muscle, Testis

Publications for Walker-Warburg Syndrome

Articles related to Walker-Warburg Syndrome:

(show top 50) (show all 120)
id Title Authors Year
1
Post Mortem Diagnostic Exome Sequencing Identifies a de novo TUBB3 Alteration in a Newborn with Prenatally Diagnosed Hydrocephalus and Suspected Walker-Warburg Syndrome. ( 27490173 )
2016
2
ISPD gene homozygous deletion identified by SNP array confirms prenatal manifestation of Walker-Warburg syndrome. ( 26087224 )
2015
3
Prenatal imaging diagnosis of cobblestone lissencephaly associated with Walker Warburg syndrome based on a specific sonographic pattern. ( 26315758 )
2015
4
Cochlear malformation and sensorineural hearing loss in the Walker-Warburg Syndrome. ( 25592765 )
2015
5
Absence of I+- and I^-dystroglycan is associated with Walker-Warburg syndrome. ( 25934851 )
2015
6
Optical Coherence Tomography in an Infant with Walker-Warburg Syndrome. ( 26265907 )
2015
7
Perioperative considerations in Walker-Warburg syndrome. ( 26401279 )
2015
8
Prenatal Diagnosis of Walker-Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus. ( 26495167 )
2015
9
Anesthesia for a child with Walker-Warburg syndrome. ( 24794457 )
2014
10
Walker-Warburg syndrome: rare congenital muscular dystrophy associated with brain and eye abnormalities. ( 25488038 )
2014
11
Walker Warburg syndrome associated with microphthalmos and megalophthalmos: A rare combination. ( 24082679 )
2013
12
A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome. ( 23877401 )
2013
13
Missense mutations in I^-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. ( 23359570 )
2013
14
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome. ( 24120487 )
2013
15
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. ( 22522421 )
2012
16
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. ( 22958903 )
2012
17
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. ( 22522420 )
2012
18
Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound. ( 22002842 )
2012
19
Walker-Warburg syndrome: demonstration of cerebellar cysts with CISS sequence. ( 22790300 )
2012
20
COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. ( 21625620 )
2011
21
Walker-Warburg syndrome. ( 22691590 )
2011
22
A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum. ( 20236121 )
2010
23
A case study on Walker-Warburg syndrome. ( 20150777 )
2010
24
Increased apoptosis of myoblasts in Drosophila model for the Walker-Warburg syndrome. ( 20644630 )
2010
25
Two cases of Walker-Warburg syndrome complicated by hydrocephalus. ( 20516736 )
2010
26
Walker-Warburg syndrome with persistent hyperplastic primary vitreous detected by prenatal ultrasonography. ( 20069672 )
2010
27
Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. ( 19266496 )
2009
28
Walker-Warburg Syndrome Manifesting as Leopard Spot Retinopathy, Retinal Detachment, and Microphthalmia. ( 19791710 )
2009
29
A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families. ( 19519795 )
2009
30
POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons. ( 19639522 )
2009
31
Prenatal ultrasound and magnetic resonance imaging features in a fetus with Walker-Warburg syndrome. ( 19222032 )
2009
32
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. ( 18752264 )
2008
33
Brain and eye malformations resembling Walker-Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblast. ( 18923033 )
2008
34
Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate. ( 18640039 )
2008
35
Differential activation of mononuclear phagocytes in cerebellar malformation associated with Walker-Warburg syndrome. ( 18069971 )
2008
36
Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. ( 18177472 )
2008
37
POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo. ( 18490429 )
2008
38
Expression of the murine Pomt1 gene in both the developing brain and adult muscle tissues and its relationship with clinical aspects of Walker-Warburg syndrome. ( 17456771 )
2007
39
A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation. ( 17161965 )
2007
40
The Walker-Warburg syndrome with cleft lip and palate. ( 17304384 )
2007
41
Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families. ( 17079174 )
2007
42
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. ( 17436019 )
2007
43
Walker-Warburg syndrome. ( 16887026 )
2006
44
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. ( 16575835 )
2006
45
Walker-Warburg Syndrome. ( 17070491 )
2006
46
Difficulties with prenatal diagnosis of the Walker-Warburg syndrome. ( 16334849 )
2005
47
Walker-Warburg syndrome: diffusion MR imaging. ( 16134304 )
2005
48
First-trimester ultrasound diagnosis in a recurrent case of Walker-Warburg syndrome. ( 16082720 )
2005
49
Glyc-O-genetics of Walker-Warburg syndrome. ( 15733261 )
2005
50
Mutations in POMT1 are found in a minority of patients with Walker- Warburg syndrome. ( 15637732 )
2005

Variations for Walker-Warburg Syndrome

ClinVar genetic disease variations for Walker-Warburg Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh37 Chromosome 19, 47259533: 47259533
2 FKRP NM_024301.4(FKRP): c.1486T> A (p.Ter496Arg) single nucleotide variant Pathogenic rs104894682 GRCh37 Chromosome 19, 47260193: 47260193
3 FKTN NM_001079802.1(FKTN): c.642dupT (p.Asp215Terfs) duplication Pathogenic/Likely pathogenic rs398123557 GRCh37 Chromosome 9, 108366768: 108366768
4 FKTN NM_001079802.1(FKTN): c.607C> T (p.Arg203Ter) single nucleotide variant Pathogenic rs746763506 GRCh38 Chromosome 9, 105604452: 105604452
5 FKRP NM_024301.4(FKRP): c.970G> T (p.Glu324Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886044183 GRCh37 Chromosome 19, 47259677: 47259677
6 FKRP NM_024301.4(FKRP): c.-39-2934_564del deletion Pathogenic GRCh38 Chromosome 19, 46752478: 46756014
7 FKRP NM_024301.4(FKRP): c.1083C> A (p.Tyr361Ter) single nucleotide variant Pathogenic rs1060502109 GRCh38 Chromosome 19, 46756533: 46756533

Copy number variations for Walker-Warburg Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 247187 9 129300000 134900000 Copy number POMT1 Walker-Warburg syndrome

Expression for Walker-Warburg Syndrome

Search GEO for disease gene expression data for Walker-Warburg Syndrome.

Pathways for Walker-Warburg Syndrome

Pathways related to Walker-Warburg Syndrome according to GeneCards Suite gene sharing:

(show all 14)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.8 B3GALNT2 B3GNT2 B4GAT1 FKRP FKTN GMPPB
2
Show member pathways
13.53 B3GALNT2 B3GNT2 B4GAT1 DAG1 GMPPB LARGE1
3
Show member pathways
12.53 COL4A1 DAG1 DMD LAMA2 LAMB2
4
Show member pathways
12.22 DAG1 DMD LAMA2 SGCA
5
Show member pathways
11.97 DAG1 DMD LAMA2 SGCA
6
Show member pathways
11.92 B3GALNT2 B3GNT2 B4GAT1 DAG1 LARGE1 POMGNT1
7
Show member pathways
11.88 COL4A1 DAG1 LAMA2 LAMB2
8 11.68 COL4A1 LAMA2 LAMB2
9 11.6 COL4A1 LAMA2 LAMB2
10 11.39 DAG1 LAMA2 LAMB2
11
Show member pathways
11.28 DAG1 DMD LAMA2 LAMB2
12 10.88 POMT1 POMT2
13 10.76 B3GALNT2 B4GAT1 FKRP FKTN ISPD LARGE1
14 10.71 DAG1 DMD LAMA2

GO Terms for Walker-Warburg Syndrome

Cellular components related to Walker-Warburg Syndrome according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.92 B3GALNT2 B3GNT2 B4GAT1 FKRP FKTN LARGE1
2 Golgi membrane GO:0000139 9.76 B3GALNT2 B3GNT2 B4GAT1 FKRP FKTN LARGE1
3 basement membrane GO:0005604 9.56 COL4A1 DAG1 LAMA2 LAMB2
4 costamere GO:0043034 9.48 DAG1 DMD
5 basal lamina GO:0005605 9.43 LAMA2 LAMB2
6 dystroglycan complex GO:0016011 9.37 DAG1 SGCA
7 sarcolemma GO:0042383 9.35 DAG1 DMD FKRP LAMA2 SGCA
8 dystrophin-associated glycoprotein complex GO:0016010 8.92 DAG1 DMD FKRP SGCA
9 membrane GO:0016020 10.37 B3GALNT2 B3GNT2 B4GAT1 DAG1 DMD FKRP
10 integral component of membrane GO:0016021 10.25 B3GALNT2 B3GNT2 B4GAT1 DAG1 FKRP FKTN
11 endoplasmic reticulum GO:0005783 10 B3GALNT2 FKRP FKTN POMGNT2 POMK POMT1

Biological processes related to Walker-Warburg Syndrome according to GeneCards Suite gene sharing:

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.93 B3GALNT2 B3GNT2 B4GAT1 FKRP FKTN ISPD
2 extracellular matrix organization GO:0030198 9.8 COL4A1 DAG1 LAMA2 LAMB2 POMT1
3 axon guidance GO:0007411 9.77 B3GNT2 B4GAT1 ISPD LAMA2 LAMB2
4 muscle organ development GO:0007517 9.73 DMD FKTN LAMA2 SGCA
5 protein O-linked glycosylation GO:0006493 9.61 B3GALNT2 B4GAT1 DAG1 LARGE1 POMGNT1 POMGNT2
6 muscle cell cellular homeostasis GO:0046716 9.57 DMD LARGE1
7 mannosylation GO:0097502 9.56 POMT1 POMT2
8 skeletal muscle tissue regeneration GO:0043403 9.56 DAG1 DMD LARGE1 SGCA
9 basement membrane organization GO:0071711 9.55 COL4A1 DAG1
10 ER-associated misfolded protein catabolic process GO:0071712 9.54 POMT1 POMT2
11 Schwann cell development GO:0014044 9.52 DAG1 LAMB2
12 Schwann cell differentiation GO:0014037 9.51 DAG1 LAMA2
13 response to denervation involved in regulation of muscle adaptation GO:0014894 9.5 DAG1 DMD SGCA
14 glycoprotein biosynthetic process GO:0009101 9.49 FKRP LARGE1
15 poly-N-acetyllactosamine biosynthetic process GO:0030311 9.48 B3GNT2 B4GAT1
16 positive regulation of protein O-linked glycosylation GO:1904100 9.46 POMT1 POMT2
17 protein O-linked mannosylation GO:0035269 9.28 B4GAT1 FKRP FKTN ISPD LARGE1 POMGNT2

Molecular functions related to Walker-Warburg Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.77 B3GALNT2 B3GNT2 B4GAT1 FKRP FKTN GMPPB
2 acetylglucosaminyltransferase activity GO:0008375 9.46 B3GALNT2 LARGE1 POMGNT1 POMGNT2
3 galactosyltransferase activity GO:0008378 9.43 B3GALNT2 B3GNT2
4 vinculin binding GO:0017166 9.4 DAG1 DMD
5 dystroglycan binding GO:0002162 9.37 DAG1 DMD
6 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.32 POMT1 POMT2
7 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity GO:0008532 9.26 B3GNT2 B4GAT1
8 transferase activity, transferring glycosyl groups GO:0016757 9.23 B3GALNT2 B3GNT2 B4GAT1 LARGE1 POMGNT1 POMGNT2

Sources for Walker-Warburg Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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34 ICD10 via Orphanet
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37 KEGG
38 LifeMap
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