CMT4B1
MCID: CHR521
MIFTS: 40

Charcot-Marie-Tooth Disease, Type 4b1 (CMT4B1)

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

Aliases & Classifications for Charcot-Marie-Tooth Disease, Type 4b1

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Type 4b1:

Name: Charcot-Marie-Tooth Disease, Type 4b1 57 29 13 6 40 72
Charcot-Marie-Tooth Disease Type 4b1 12 53 59 15
Cmt4b1 57 12 59 74
Cmt4b 57 74 55
Charcot-Marie-Tooth Neuropathy Type 4b1 12 74
Charcot-Marie-Tooth Disease, Type 4b 57 53
Charcot-Marie-Tooth Disease Type 4b 75 74
Charcot-Marie-Tooth Disease, Autosomal Recessive, with Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1 57
Autosomal Recessive Charcot-Marie-Tooth Disease with Focally Folded Myelin Sheaths Type 4b1 12
Charcot-Marie-Tooth Disease Autosomal Recessive with Focally Folded Myelin Sheaths 4b1 74
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b1 74
Charcot-Marie-Tooth Disease, Type 4b; Cmt4b 57
Charcot-Marie-Tooth Neuropathy, Type 4b1 57
Charcot Marie Tooth Disease Type 4b1 53
Charcot-Marie-Tooth Disease 4b1 74
Cmt 4b1 53
Cmt 4b 53

Characteristics:

Orphanet epidemiological data:

59
charcot-marie-tooth disease type 4b1
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
mean age of onset 34 months
death in fourth to fifth decade
begins in feet and legs (peroneal distribution)
severe clinical course
genetic heterogeneity (see cmt4b2, )


HPO:

32
charcot-marie-tooth disease, type 4b1:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110191
MeSH 44 D002607
ICD10 33 G60.0
MESH via Orphanet 45 C535420
ICD10 via Orphanet 34 G60.0
UMLS via Orphanet 73 C1832399
Orphanet 59 ORPHA99955
MedGen 42 C1832399
UMLS 72 C1832399

Summaries for Charcot-Marie-Tooth Disease, Type 4b1

UniProtKB/Swiss-Prot : 74 Charcot-Marie-Tooth disease 4B1: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.

MalaCards based summary : Charcot-Marie-Tooth Disease, Type 4b1, also known as charcot-marie-tooth disease type 4b1, is related to sensory peripheral neuropathy and neuropathy, and has symptoms including facial paresis An important gene associated with Charcot-Marie-Tooth Disease, Type 4b1 is MTMR2 (Myotubularin Related Protein 2), and among its related pathways/superpathways is RAB GEFs exchange GTP for GDP on RABs. Related phenotypes are scoliosis and facial palsy

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 4 that has material basis in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2).

Wikipedia : 75 Charcot-Marie-Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies, a group of... more...

More information from OMIM: 601382 PS118220

Related Diseases for Charcot-Marie-Tooth Disease, Type 4b1

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4d Charcot-Marie-Tooth Disease, Type 4c
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Dominant Intermediate D
Charcot-Marie-Tooth Disease, Dominant Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate a
Charcot-Marie-Tooth Disease, Type 4h Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Recessive Intermediate B Charcot-Marie-Tooth Disease, Dominant Intermediate E
Charcot-Marie-Tooth Disease, Dominant Intermediate F Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate D
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease, Dominant Intermediate G
Charcot-Marie-Tooth Disease Type X Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 2a2 Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease Type 2a Charcot-Marie-Tooth Disease Type 2c
Charcot-Marie-Tooth Disease Type 2f Charcot-Marie-Tooth Disease Type 2g
Charcot-Marie-Tooth Disease Type 2k Charcot-Marie-Tooth Disease Type 2l
Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Disease Type 2o
Charcot-Marie-Tooth Disease Type 2q Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Diseases related to Charcot-Marie-Tooth Disease, Type 4b1 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 22, show less)
# Related Disease Score Top Affiliating Genes
1 sensory peripheral neuropathy 30.0 PRX MTMR2 GDAP1
2 neuropathy 30.0 SBF2 PRX GDAP1
3 charcot-marie-tooth disease, type 4b2 28.9 SBF2 SBF1 PRX MTMR2 MTM1 GDAP1
4 peripheral nervous system disease 28.9 PRX MTMR2 MTM1 GDAP1
5 tooth disease 28.8 SBF2 SBF1 PRX MTMR2 GDAP1
6 charcot-marie-tooth disease, type 4b3 28.6 SBF2 SBF1 MTMR2 MTM1 GDAP1
7 charcot-marie-tooth disease 28.2 SBF2 SBF1 PRX MTMR2 MTM1 GDAP1
8 neuropathy, congenital hypomyelinating, 1, autosomal recessive 11.4
9 polyneuropathy 10.5
10 myopathy 10.5
11 intraocular pressure quantitative trait locus 10.1
12 charcot-marie-tooth disease, type 4j 10.1 SBF2 MTMR2
13 charcot-marie-tooth disease, demyelinating, type 1a 9.8 MTMR2 GDAP1
14 spinocerebellar ataxia type 1 with axonal neuropathy 9.7 SBF2 PRX MTMR2
15 neuropathy, hereditary, with liability to pressure palsies 9.7 MTMR2 GDAP1
16 charcot-marie-tooth disease and deafness 9.5 MTMR2 GDAP1
17 hypertrophic neuropathy of dejerine-sottas 9.4 PRX MTMR2 GDAP1
18 centronuclear myopathy 9.3 SBF1 MTMR2 MTM1
19 charcot-marie-tooth disease, demyelinating, type 4f 9.2 SBF2 PRX MTMR2 GDAP1
20 charcot-marie-tooth disease, axonal, type 2e 9.2 SBF2 MTMR2 MTM1 GDAP1
21 charcot-marie-tooth disease, type 4a 9.2 SBF2 PRX MTMR2 GDAP1
22 early-onset glaucoma 9.1 SBF2 SBF1 MTMR2 MTM1

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Type 4b1:



Diseases related to Charcot-Marie-Tooth Disease, Type 4b1

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Type 4b1

Human phenotypes related to Charcot-Marie-Tooth Disease, Type 4b1:

32 (showing 11, show less)
# Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 facial palsy 32 HP:0010628
3 decreased motor nerve conduction velocity 32 HP:0003431
4 motor delay 32 HP:0001270
5 talipes equinovarus 32 HP:0001762
6 proximal muscle weakness 32 HP:0003701
7 distal amyotrophy 32 HP:0003693
8 distal muscle weakness 32 HP:0002460
9 distal sensory impairment 32 HP:0002936
10 abnormal auditory evoked potentials 32 HP:0006958
11 irregular myelin loops 32 HP:0007208

Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
talipes equinovarus
foot deformities

Head And Neck Face:
facial weakness

Neurologic Peripheral Nervous System:
distal sensory impairment
abnormal auditory evoked potentials
delayed motor development
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
more
Skeletal Spine:
scoliosis may be present

Clinical features from OMIM:

601382

UMLS symptoms related to Charcot-Marie-Tooth Disease, Type 4b1:


facial paresis

GenomeRNAi Phenotypes related to Charcot-Marie-Tooth Disease, Type 4b1 according to GeneCards Suite gene sharing:

26 (showing 1, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 8.8 CDKN3 MTM1 MTMR2

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Type 4b1

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Type 4b1

Genetic Tests for Charcot-Marie-Tooth Disease, Type 4b1

Genetic tests related to Charcot-Marie-Tooth Disease, Type 4b1:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type 4b1 29 MTMR2

Anatomical Context for Charcot-Marie-Tooth Disease, Type 4b1

Publications for Charcot-Marie-Tooth Disease, Type 4b1

Articles related to Charcot-Marie-Tooth Disease, Type 4b1:

(showing 45, show less)
# Title Authors PMID Year
1
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. 9 8 71
10802647 2000
2
An animal model for Charcot-Marie-Tooth disease type 4B1. 38 8
16249189 2005
3
Charcot-Marie-Tooth Neuropathy Type 4 38 71
20301641 1998
4
Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing. 9 8
8817346 1996
5
Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22. 8
10673338 2000
6
Exclusion of the SCN2B gene as candidate for CMT4B. 8
9887383 1998
7
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 71
20301532 1998
8
Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family. 8
8628474 1996
9
The phosphoinositide 3-phosphatase MTMR2 interacts with PSD-95 and maintains excitatory synapses by modulating endosomal traffic. 9 38
20410104 2010
10
Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases. 9 38
17880751 2007
11
Silencing of the Charcot-Marie-Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells. 9 38
17336078 2007
12
[Molecular genetics of inherited neuropathies]. 9 38
17432174 2006
13
[Molecular genetics of inherited neuropathies]. 9 38
16541790 2006
14
Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings. 9 38
16162938 2005
15
Membrane association of myotubularin-related protein 2 is mediated by a pleckstrin homology-GRAM domain and a coiled-coil dimerization module. 9 38
14530412 2003
16
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. 9 38
12687498 2003
17
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs). 38
31070812 2019
18
Whole-Exome Sequencing Identifies a Novel Homozygous Frameshift Mutation in the MTMR2 Gene as a Causative Mutation in a Patient with Charcot-Marie-Tooth Disease Type 4B1. 38
28509084 2018
19
An In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination. 38
30419760 2018
20
Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature. 38
28190646 2017
21
Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination. 38
27799291 2016
22
SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2. 38
27466180 2016
23
Occurrence of Optic Neuritis and Cervical Cord Schwannoma with Charcot-Marie-Tooth Type 4B1 Disease. 38
27162595 2016
24
"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies. 38
27123480 2016
25
Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation. 38
25388615 2015
26
Mild phenotype of Charcot-Marie-Tooth disease type 4B1. 38
23962696 2013
27
SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. 38
23749797 2013
28
The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression. 38
23297362 2013
29
Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes. 38
21741241 2011
30
Respiratory muscle weakness in peripheral neuropathies. 38
21199102 2010
31
Dlg1, Sec8, and Mtmr2 regulate membrane homeostasis in Schwann cell myelination. 9
19587293 2009
32
Genetic study of demyelinating form of autosomal-recessive Charcot-Marie-tooth diseases in a Turkish family. 38
19922348 2009
33
Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice. 38
18349142 2008
34
Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2. 38
17855448 2007
35
Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system. 38
17917119 2007
36
The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease. 9
15998640 2005
37
Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis. 38
15557122 2004
38
SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma. 9
15304601 2004
39
Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve. 38
12837694 2003
40
Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase. 9
12668758 2003
41
Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases. 9
12646134 2003
42
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. 9
12554688 2003
43
Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1. 38
12045210 2002
44
Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B. 9
11867209 2002
45
Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy. 9
11354824 2001

Variations for Charcot-Marie-Tooth Disease, Type 4b1

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Type 4b1:

6 (showing 14, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MTMR2 NM_016156.5(MTMR2): c.1164G> A (p.Trp388Ter) single nucleotide variant Pathogenic rs1555060024 11:95580893-95580893 11:95847729-95847729
2 MTMR2 MTMR2, 10-BP DEL/2-BP INS indel Pathogenic
3 MTMR2 NM_016156.5(MTMR2): c.1276C> T (p.Gln426Ter) single nucleotide variant Pathogenic rs121434402 11:95578227-95578227 11:95845063-95845063
4 MTMR2 MTMR2, IVS13, G-A, +1 single nucleotide variant Pathogenic
5 MTMR2 NM_016156.5(MTMR2): c.826G> T (p.Glu276Ter) single nucleotide variant Pathogenic rs121434403 11:95583005-95583005 11:95849841-95849841
6 MTMR2 NM_016156.5(MTMR2): c.1444C> T (p.Gln482Ter) single nucleotide variant Pathogenic rs121434404 11:95574816-95574816 11:95841652-95841652
7 MTMR2 NM_016156.5(MTMR2): c.1768C> T (p.Gln590Ter) single nucleotide variant Pathogenic 11:95569314-95569314 11:95836150-95836150
8 MTMR2 NM_016156.5(MTMR2): c.570+11T> C single nucleotide variant Conflicting interpretations of pathogenicity rs182582445 11:95591684-95591684 11:95858520-95858520
9 MTMR2 NM_016156.5(MTMR2): c.1756C> A (p.Arg586=) single nucleotide variant Benign/Likely benign rs61735577 11:95569326-95569326 11:95836162-95836162
10 MTMR2 NM_016156.5(MTMR2): c.1504G> C (p.Glu502Gln) single nucleotide variant Benign/Likely benign rs61735578 11:95571347-95571347 11:95838183-95838183
11 MTMR2 NM_016156.5(MTMR2): c.1233G> A (p.Thr411=) single nucleotide variant Benign/Likely benign rs113897932 11:95578270-95578270 11:95845106-95845106
12 MTMR2 NM_016156.5(MTMR2): c.80+13C> T single nucleotide variant Benign/Likely benign rs139510268 11:95657026-95657026 11:95923862-95923862
13 MTMR2 NM_016156.5(MTMR2): c.1131C> T (p.Thr377=) single nucleotide variant Benign rs566204 11:95580926-95580926 11:95847762-95847762
14 MTMR2 NM_016156.5(MTMR2): c.8A> C (p.Lys3Thr) single nucleotide variant Benign rs3824874 11:95657111-95657111 11:95923947-95923947

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Type 4b1:

74 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 MTMR2 p.Arg283Trp VAR_047947

Expression for Charcot-Marie-Tooth Disease, Type 4b1

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Type 4b1.

Pathways for Charcot-Marie-Tooth Disease, Type 4b1

Pathways related to Charcot-Marie-Tooth Disease, Type 4b1 according to GeneCards Suite gene sharing:

(showing 1, show less)
# Super pathways Score Top Affiliating Genes
1 10.58 SBF2 SBF1

GO Terms for Charcot-Marie-Tooth Disease, Type 4b1

Cellular components related to Charcot-Marie-Tooth Disease, Type 4b1 according to GeneCards Suite gene sharing:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.63 SBF2 SBF1 MTMR2 MTM1 GDAP1 CDKN3
2 cytoplasm GO:0005737 9.5 SBF2 SBF1 PRX MTMR2 MTM1 GDAP1
3 vacuolar membrane GO:0005774 8.62 SBF2 MTMR2

Biological processes related to Charcot-Marie-Tooth Disease, Type 4b1 according to GeneCards Suite gene sharing:

(showing 7, show less)
# Name GO ID Score Top Affiliating Genes
1 dephosphorylation GO:0016311 9.43 MTMR2 MTM1 CDKN3
2 regulation of GTPase activity GO:0043087 9.4 SBF2 SBF1
3 peptidyl-tyrosine dephosphorylation GO:0035335 9.33 MTMR2 MTM1 CDKN3
4 phosphatidylinositol dephosphorylation GO:0046856 9.32 MTMR2 MTM1
5 phosphatidylinositol biosynthetic process GO:0006661 9.13 SBF1 MTMR2 MTM1
6 protein tetramerization GO:0051262 9.07 SBF2
7 protein dephosphorylation GO:0006470 8.92 SBF1 MTMR2 MTM1 CDKN3

Molecular functions related to Charcot-Marie-Tooth Disease, Type 4b1 according to GeneCards Suite gene sharing:

(showing 9, show less)
# Name GO ID Score Top Affiliating Genes
1 phosphoprotein phosphatase activity GO:0004721 9.46 MTM1 CDKN3
2 phosphatidylinositol binding GO:0035091 9.43 SBF2 MTM1
3 phosphatase activity GO:0016791 9.43 MTMR2 MTM1 CDKN3
4 Rab guanyl-nucleotide exchange factor activity GO:0017112 9.4 SBF2 SBF1
5 phosphatidylinositol-3-phosphatase activity GO:0004438 9.37 MTMR2 MTM1
6 protein tyrosine phosphatase activity GO:0004725 9.33 MTMR2 MTM1 CDKN3
7 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity GO:0052629 9.32 MTMR2 MTM1
8 phosphatase regulator activity GO:0019208 8.96 SBF2 SBF1
9 protein tyrosine/serine/threonine phosphatase activity GO:0008138 8.8 SBF1 MTMR2 CDKN3

Sources for Charcot-Marie-Tooth Disease, Type 4b1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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
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44 MeSH
45 MESH via Orphanet
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49 NCI
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51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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