MCID: XLN110
MIFTS: 36

X-Linked Charcot-Marie-Tooth Disease

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

Aliases & Classifications for X-Linked Charcot-Marie-Tooth Disease

MalaCards integrated aliases for X-Linked Charcot-Marie-Tooth Disease:

Name: X-Linked Charcot-Marie-Tooth Disease 53
X-Linked Hereditary Motor and Sensory Neuropathy 53 29 6
Charcot-Marie-Tooth Disease, X-Linked, 1 73
Charcot-Marie-Tooth, X-Linked 6
Cmtx 53

Classifications:



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UMLS 73 C0393808

Summaries for X-Linked Charcot-Marie-Tooth Disease

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 64747Disease definitionX-linked Charcot-Marie-Tooth disease (CMTX) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.Clinical descriptionCMTX1 is characterized by a slowly progressive course: muscle wasting and weakness of distal limb muscles mainly involving the feet, legs and hands (particularly the thenar eminence), with proximal muscle weakness occurring in severe cases; distal sensory loss; loss of deep tendon reflexes; pes cavus and more rarely scoliosis. Rare instances of transient central nervous system (CNS) dysfunction have been described, with dysarthria, dysphagia, weakness, ataxia, and even aphasia and somnolence. All forms of CMTX are rare and are characterized by intellectual deficit (CMTX2, CMTX4), spastic paraplegia (CMTX3), hearing loss (CMTX4, CMTX5, rarely CMTX1), and optic atrophy (CMTX5).EtiologyCMTX1 is associated with mutations in the GJB1 gene (Xq13.1), encoding connexin 32 (Cx32). Cx32 forms gap-junctions in non-compact myelin produced by myelinating Schwann cells. Cx32 is also expressed in oligodendrocytes, explaining the potential CNS involvement. CMTX5 is associated with mutations in the phosphoribosylpyrophosphate synthetase 1 gene (PRPS1). CMTX1 is transmitted as an X-linked dominanttrait and males are more severely affected than females, whereas the other CMTX types are X-linked recessive and female carriers are usually unaffected.Diagnostic methodsDiagnosis is based on family and personal history, clinical examination, nerve conduction studies (NCS), and DNA testing (for CMTX1). NCS show a sensorimotor polyneuropathy with decreased conduction velocities in males (usually in the intermediate range of 30-45 m/s in upper limb motor nerves) and mildly decreased or even normal velocities in females. In contrast with other CMT types, conduction slowing is frequently nonhomogeneous, with temporal dispersion and sometimes conduction blocks, and the median nerve being more severely affected than the ulnar nerve. Nerve biopsy reveals prominent axonal changes, in spite of nerve conduction slowing, with evidence of ultrastructural abnormalities in the paranodal regions. Auditory evoked potentials usually reveal abnormalities of central waves in the brainstem, consistent with frequent subclinical brain involvement in CMTX1.Differential diagnosisDifferential diagnosis includes other CMT types and acquired dysimmune neuropathies such as chronic inflammatory demyelinating polyradiculoneuropathy (see these terms).Antenatal diagnosisPrenatal diagnosis is possible for CMTX1 when the mutation is known.Genetic counselingAs an X-linked dominant trait, there is no male-to-male transmission; female carriers are usually mildly affected and have a 50% risk of transmitting the disease to their offspring.Management and treatmentThere is no drug treatment available. Rehabilitation therapy and surgical treatment of skeletal deformities are the only options.PrognosisCMTX1 is moderately severe for affected males, who may loose ambulation capacity later in life.Visit the Orphanet disease page for more resources.

MalaCards based summary : X-Linked Charcot-Marie-Tooth Disease, also known as x-linked hereditary motor and sensory neuropathy, is related to charcot-marie-tooth disease, x-linked recessive, 5 and charcot-marie-tooth disease, x-linked recessive, 3, and has symptoms including numbness, tremor and paraparesis. An important gene associated with X-Linked Charcot-Marie-Tooth Disease is GJB1 (Gap Junction Protein Beta 1), and among its related pathways/superpathways are Gap junction trafficking and Oligomerization of connexins into connexons. Affiliated tissues include brain and testes, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for X-Linked Charcot-Marie-Tooth Disease

Graphical network of the top 20 diseases related to X-Linked Charcot-Marie-Tooth Disease:



Diseases related to X-Linked Charcot-Marie-Tooth Disease

Symptoms & Phenotypes for X-Linked Charcot-Marie-Tooth Disease

UMLS symptoms related to X-Linked Charcot-Marie-Tooth Disease:


numbness, tremor, paraparesis, monoparesis

GenomeRNAi Phenotypes related to X-Linked Charcot-Marie-Tooth Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 8.92 GJB1 PDK3
2 Decreased viability GR00402-S-2 8.92 GJB1 PDK3

Drugs & Therapeutics for X-Linked Charcot-Marie-Tooth Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Muscle MRI in Charcot Mary Tooth Disease: a Prospective Cohort Study Not yet recruiting NCT03550300

Search NIH Clinical Center for X-Linked Charcot-Marie-Tooth Disease

Genetic Tests for X-Linked Charcot-Marie-Tooth Disease

Genetic tests related to X-Linked Charcot-Marie-Tooth Disease:

# Genetic test Affiliating Genes
1 X-Linked Hereditary Motor and Sensory Neuropathy 29 GJB1

Anatomical Context for X-Linked Charcot-Marie-Tooth Disease

MalaCards organs/tissues related to X-Linked Charcot-Marie-Tooth Disease:

41
Brain, Testes

Publications for X-Linked Charcot-Marie-Tooth Disease

Articles related to X-Linked Charcot-Marie-Tooth Disease:

(show top 50) (show all 82)
# Title Authors Year
1
Coexistence of Amyotrophic Lateral Sclerosis in the Proband of an X-Linked Charcot-Marie-Tooth Disease Type 1 Pedigree in China. ( 29629536 )
2018
2
Substitution impact of highly conserved arginine residue at position 75 in GJB1 gene in association with X-linked Charcot-Marie-tooth disease: A computational study. ( 29111421 )
2018
3
Anaesthesia and orphan diseases: anaesthetic management of a patient with X-linked Charcot-Marie-Tooth disease type 1. ( 29870477 )
2018
4
X-linked Charcot-Marie-Tooth disease with GJB1 mutation presenting as acute disseminated encephalomyelitis-like illness: A case report. ( 29245364 )
2017
5
Centrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimic. ( 28097225 )
2017
6
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1). ( 28768847 )
2017
7
Preimplantation genetic diagnosis of X-linked Charcot-Marie-Tooth disease by indirect linkage analysis. ( 28797703 )
2017
8
Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1. ( 28448691 )
2017
9
Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese Patients. ( 27098783 )
2016
10
Systemic inflammation disrupts oligodendrocyte gap junctions and induces ER stress in a model of CNS manifestations of X-linked Charcot-Marie-Tooth disease. ( 27585976 )
2016
11
X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene. ( 26801680 )
2016
12
A Review of X-linked Charcot-Marie-Tooth Disease. ( 26385972 )
2015
13
Intraneural GJB1 gene delivery improves nerve pathology in a model of X-linked Charcot-Marie-Tooth disease. ( 26010264 )
2015
14
Relapsing remitting multiple sclerosis in x-linked charcot-marie-tooth disease with central nervous system involvement. ( 25883816 )
2015
15
A novel mutation in GJB1 (c.212T>G) in a Chinese family with X-linked Charcot-Marie-Tooth disease. ( 25595958 )
2015
16
Transient, recurrent, white matter lesions in x-linked Charcot-Marie-tooth disease with novel mutation of gap junction protein beta 1 gene in China: a case report. ( 25086786 )
2014
17
GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems. ( 25370202 )
2014
18
Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease. Phenotypic variability and central nervous system involvement. ( 24768312 )
2014
19
Novel familial pathogenic mutation in gap junction protein, beta-1 gene (GJB1) associated with transient neurological deficits in a patient with X-linked Charcot-Marie-Tooth disease. ( 25043634 )
2014
20
X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation. ( 24528855 )
2014
21
X-linked Charcot-Marie-Tooth disease predominates in a cohort of multiethnic Malaysian patients. ( 23649551 )
2014
22
The Central Nervous System Phenotype of X-Linked Charcot-Marie-Tooth Disease: A Transient Disorder of Children and Young Adults. ( 23400245 )
2013
23
Inflammatory demyelinating CNS disorder in a case of X-linked Charcot-Marie-Tooth disease: positive response to natalizumab. ( 22411047 )
2012
24
Diffusion tensor imaging and magnetic resonance spectroscopy of transient cerebral white matter lesions in X-linked Charcot-Marie-Tooth disease. ( 22341131 )
2012
25
X inactivation in females with X-linked Charcot-Marie-Tooth disease. ( 22483671 )
2012
26
X-linked Charcot-Marie-Tooth disease. ( 23279425 )
2012
27
How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease? ( 22771394 )
2012
28
A novel mutation of gap junction protein I^ 1 gene in X-linked Charcot-Marie-Tooth disease. ( 21607969 )
2011
29
Recurrent stroke-like episodes in X-linked Charcot-Marie-Tooth disease. ( 21900630 )
2011
30
MRI findings in X-linked Charcot-Marie-Tooth disease associated with a novel connexin 32 mutation. ( 21300330 )
2011
31
A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood. ( 21282593 )
2011
32
A novel GJB1 frameshift mutation produces a transient CNS symptom of X-linked Charcot-Marie-Tooth disease. ( 20857133 )
2011
33
A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease. ( 21504505 )
2011
34
Vocal cord paresis and probable X-linked Charcot-Marie-Tooth disease with novel GJB1 mutation. ( 20942588 )
2010
35
A novel deletion mutation in GJB1 causes X-linked Charcot-Marie-Tooth disease in a Han Chinese family. ( 21104867 )
2010
36
X-linked Charcot-Marie-Tooth disease with novel c.47A>T GJB1 gene mutation. ( 20626781 )
2010
37
GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease. ( 20532933 )
2010
38
Transient leukoencephalopathy associated with X-linked Charcot-Marie-Tooth disease. ( 20472869 )
2010
39
[Two novel mutations of GJB1 gene associated with typical X-linked Charcot-Marie-Tooth disease]. ( 20193560 )
2009
40
Central nervous system signs in X-linked Charcot-Marie-Tooth disease after hyperventilation. ( 18358413 )
2008
41
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease. ( 18379723 )
2008
42
X-linked Charcot-Marie-Tooth disease (CMTX) in a severely affected female patient with scattered lesions in cerebral white matter. ( 17603245 )
2007
43
X-linked Charcot-Marie-Tooth disease and multiple sclerosis. ( 17468966 )
2007
44
[The same mutation Glu208Lys in the GJB1 gene was detected in 2 families with X-linked Charcot-Marie-Tooth disease]. ( 17646144 )
2007
45
Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease. ( 17620124 )
2007
46
Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population. ( 17100997 )
2006
47
A novel Cx32 mutation causes X-linked Charcot-Marie-Tooth disease with brainstem involvement and brain magnetic resonance spectroscopy abnormalities. ( 16688595 )
2006
48
Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease with phenotypic variability. ( 16096811 )
2006
49
X-linked Charcot-Marie-Tooth disease with transient splenium lesion on MRI. ( 16467604 )
2006
50
Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease. ( 17159110 )
2006

Variations for X-Linked Charcot-Marie-Tooth Disease

ClinVar genetic disease variations for X-Linked Charcot-Marie-Tooth Disease:

6
(show top 50) (show all 118)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB1 NM_000166.5(GJB1): c.424C> T (p.Arg142Trp) single nucleotide variant Pathogenic rs104894810 GRCh37 Chromosome X, 70443981: 70443981
2 GJB1 NM_000166.5(GJB1): c.424C> T (p.Arg142Trp) single nucleotide variant Pathogenic rs104894810 GRCh38 Chromosome X, 71224131: 71224131
3 GJB1 NM_001097642.2(GJB1): c.514C> T (p.Pro172Ser) single nucleotide variant Pathogenic rs104894811 GRCh37 Chromosome X, 70444071: 70444071
4 GJB1 NM_001097642.2(GJB1): c.514C> T (p.Pro172Ser) single nucleotide variant Pathogenic rs104894811 GRCh38 Chromosome X, 71224221: 71224221
5 GJB1 NM_000166.5(GJB1): c.415G> A (p.Val139Met) single nucleotide variant Pathogenic rs104894812 GRCh37 Chromosome X, 70443972: 70443972
6 GJB1 NM_000166.5(GJB1): c.415G> A (p.Val139Met) single nucleotide variant Pathogenic rs104894812 GRCh38 Chromosome X, 71224122: 71224122
7 GJB1 NM_001097642.2(GJB1): c.397T> C (p.Trp133Arg) single nucleotide variant Pathogenic rs104894813 GRCh37 Chromosome X, 70443954: 70443954
8 GJB1 NM_001097642.2(GJB1): c.397T> C (p.Trp133Arg) single nucleotide variant Pathogenic rs104894813 GRCh38 Chromosome X, 71224104: 71224104
9 GJB1 NM_000166.5(GJB1): c.658C> T (p.Arg220Ter) single nucleotide variant Pathogenic rs104894814 GRCh37 Chromosome X, 70444215: 70444215
10 GJB1 NM_000166.5(GJB1): c.658C> T (p.Arg220Ter) single nucleotide variant Pathogenic rs104894814 GRCh38 Chromosome X, 71224365: 71224365
11 GJB1 NM_001097642.2(GJB1): c.89T> A (p.Ile30Asn) single nucleotide variant Pathogenic rs104894817 GRCh37 Chromosome X, 70443646: 70443646
12 GJB1 NM_001097642.2(GJB1): c.89T> A (p.Ile30Asn) single nucleotide variant Pathogenic rs104894817 GRCh38 Chromosome X, 71223796: 71223796
13 GJB1 NM_000166.5(GJB1): c.467T> G (p.Leu156Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894818 GRCh37 Chromosome X, 70444024: 70444024
14 GJB1 NM_000166.5(GJB1): c.467T> G (p.Leu156Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894818 GRCh38 Chromosome X, 71224174: 71224174
15 GJB1 NM_001097642.2(GJB1): c.194A> G (p.Tyr65Cys) single nucleotide variant Pathogenic rs104894819 GRCh37 Chromosome X, 70443751: 70443751
16 GJB1 NM_001097642.2(GJB1): c.194A> G (p.Tyr65Cys) single nucleotide variant Pathogenic rs104894819 GRCh38 Chromosome X, 71223901: 71223901
17 GJB1 NM_001097642.2(GJB1): c.37G> T (p.Val13Leu) single nucleotide variant Pathogenic rs104894820 GRCh37 Chromosome X, 70443594: 70443594
18 GJB1 NM_001097642.2(GJB1): c.37G> T (p.Val13Leu) single nucleotide variant Pathogenic rs104894820 GRCh38 Chromosome X, 71223744: 71223744
19 GJB1 GJB1, 1-BP DEL deletion Pathogenic
20 GJB1 NM_000166.5(GJB1): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic rs104894821 GRCh37 Chromosome X, 70443840: 70443840
21 GJB1 NM_000166.5(GJB1): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic rs104894821 GRCh38 Chromosome X, 71223990: 71223990
22 GJB1 NM_000166.5(GJB1): c.614A> G (p.Asn205Ser) single nucleotide variant Pathogenic rs104894822 GRCh37 Chromosome X, 70444171: 70444171
23 GJB1 NM_000166.5(GJB1): c.614A> G (p.Asn205Ser) single nucleotide variant Pathogenic rs104894822 GRCh38 Chromosome X, 71224321: 71224321
24 GJB1 GJB1, 367G-T single nucleotide variant Pathogenic
25 GJB1 NM_001097642.2(GJB1): c.254C> G (p.Ser85Cys) single nucleotide variant Pathogenic rs104894823 GRCh37 Chromosome X, 70443811: 70443811
26 GJB1 NM_001097642.2(GJB1): c.254C> G (p.Ser85Cys) single nucleotide variant Pathogenic rs104894823 GRCh38 Chromosome X, 71223961: 71223961
27 GJB1 GJB1, -528T-G single nucleotide variant Pathogenic
28 GJB1 NM_000166.5(GJB1): c.164C> T (p.Thr55Ile) single nucleotide variant Pathogenic rs104894824 GRCh37 Chromosome X, 70443721: 70443721
29 GJB1 NM_000166.5(GJB1): c.164C> T (p.Thr55Ile) single nucleotide variant Pathogenic rs104894824 GRCh38 Chromosome X, 71223871: 71223871
30 GJB1 GJB1, 21-BP DUP duplication Pathogenic
31 GJB1 GJB1, 3-BP DEL, 304GAG deletion Pathogenic
32 GJB1 GJB1, -526G-C single nucleotide variant Pathogenic
33 GJB1 NM_000166.5(GJB1): c.407T> C (p.Val136Ala) single nucleotide variant Pathogenic rs104894826 GRCh37 Chromosome X, 70443964: 70443964
34 GJB1 NM_000166.5(GJB1): c.407T> C (p.Val136Ala) single nucleotide variant Pathogenic rs104894826 GRCh38 Chromosome X, 71224114: 71224114
35 GJB1 NM_000166.5(GJB1): c.123G> C (p.Glu41Asp) single nucleotide variant Pathogenic rs116840816 GRCh37 Chromosome X, 70443680: 70443680
36 GJB1 NM_000166.5(GJB1): c.123G> C (p.Glu41Asp) single nucleotide variant Pathogenic rs116840816 GRCh38 Chromosome X, 71223830: 71223830
37 GJB1 NM_000166.5(GJB1): c.145T> C (p.Ser49Pro) single nucleotide variant Pathogenic rs116840817 GRCh37 Chromosome X, 70443702: 70443702
38 GJB1 NM_000166.5(GJB1): c.145T> C (p.Ser49Pro) single nucleotide variant Pathogenic rs116840817 GRCh38 Chromosome X, 71223852: 71223852
39 GJB1 NM_000166.5(GJB1): c.187G> A (p.Val63Ile) single nucleotide variant Pathogenic rs116840818 GRCh37 Chromosome X, 70443744: 70443744
40 GJB1 NM_000166.5(GJB1): c.187G> A (p.Val63Ile) single nucleotide variant Pathogenic rs116840818 GRCh38 Chromosome X, 71223894: 71223894
41 GJB1 NM_000166.5(GJB1): c.223C> T (p.Arg75Trp) single nucleotide variant Pathogenic rs116840819 GRCh37 Chromosome X, 70443780: 70443780
42 GJB1 NM_000166.5(GJB1): c.223C> T (p.Arg75Trp) single nucleotide variant Pathogenic rs116840819 GRCh38 Chromosome X, 71223930: 71223930
43 GJB1 NM_000166.5(GJB1): c.225delG (p.Leu76Cysfs) deletion Pathogenic rs116840820 GRCh37 Chromosome X, 70443782: 70443782
44 GJB1 NM_000166.5(GJB1): c.225delG (p.Leu76Cysfs) deletion Pathogenic rs116840820 GRCh38 Chromosome X, 71223932: 71223932
45 GJB1 NM_000166.5(GJB1): c.43C> T (p.Arg15Trp) single nucleotide variant Pathogenic rs116840815 GRCh37 Chromosome X, 70443600: 70443600
46 GJB1 NM_000166.5(GJB1): c.43C> T (p.Arg15Trp) single nucleotide variant Pathogenic rs116840815 GRCh38 Chromosome X, 71223750: 71223750
47 GJB1 NM_000166.5(GJB1): c.536G> A (p.Cys179Tyr) single nucleotide variant Likely pathogenic rs116840822 GRCh37 Chromosome X, 70444093: 70444093
48 GJB1 NM_000166.5(GJB1): c.536G> A (p.Cys179Tyr) single nucleotide variant Likely pathogenic rs116840822 GRCh38 Chromosome X, 71224243: 71224243
49 GJB1 NM_000166.5(GJB1): c.556G> A (p.Glu186Lys) single nucleotide variant Pathogenic rs116840821 GRCh37 Chromosome X, 70444113: 70444113
50 GJB1 NM_000166.5(GJB1): c.556G> A (p.Glu186Lys) single nucleotide variant Pathogenic rs116840821 GRCh38 Chromosome X, 71224263: 71224263

Expression for X-Linked Charcot-Marie-Tooth Disease

Search GEO for disease gene expression data for X-Linked Charcot-Marie-Tooth Disease.

Pathways for X-Linked Charcot-Marie-Tooth Disease

GO Terms for X-Linked Charcot-Marie-Tooth Disease

Cellular components related to X-Linked Charcot-Marie-Tooth Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lateral plasma membrane GO:0016328 9.16 GJB1 GJB2
2 gap junction GO:0005921 8.96 GJB1 GJB2
3 connexin complex GO:0005922 8.62 GJB1 GJB2

Biological processes related to X-Linked Charcot-Marie-Tooth Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell communication GO:0007154 9.16 GJB1 GJB2
2 gap junction assembly GO:0016264 8.96 GJB1 GJB2
3 epididymis development GO:1905867 8.62 GJB1 GJB2

Molecular functions related to X-Linked Charcot-Marie-Tooth Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.62 GJB1 GJB2

Sources for X-Linked Charcot-Marie-Tooth Disease

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