CMT1C
MCID: CHR647
MIFTS: 38

Charcot-Marie-Tooth Disease, Demyelinating, Type 1c (CMT1C)

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

Aliases & Classifications for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c:

Name: Charcot-Marie-Tooth Disease, Demyelinating, Type 1c 57 53
Charcot-Marie-Tooth Disease, Type 1c 57 29 13 6 73
Charcot-Marie-Tooth Disease Type 1c 12 53 59 15
Cmt1c 57 12 59 75
Hmsn Ic 57 12 75
Hmsn1c 57 12 75
Charcot-Marie-Tooth Neuropathy Type 1c 12 75
Neuropathy, Hereditary Motor and Sensory, Type Ic; Hmsn1c 57
Neuropathy, Hereditary Motor and Sensory, Type Ic 57
Charcot-Marie-Tooth Disease Demyelinating Type 1c 75
Neuropathy Hereditary Motor and Sensory Type 1c 12
Hereditary Motor and Sensory Neuropathy Ic 75
Charcot-Marie-Tooth Neuropathy, Type 1c 57
Charcot-Marie-Tooth Disease, Type Ic 40
Charcot Marie Tooth Disease Type 1c 53
Cmt, Slow Nerve Conduction Type C 57
Charcotmarietooth Disease Type 1c 76
Cmt Slow Nerve Conduction Type C 12
Charcot-Marie-Tooth Disease 1c 75
Cmt 1c 53

Characteristics:

Orphanet epidemiological data:

59
charcot-marie-tooth disease type 1c
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see cmt1b, )
onset usually in childhood


HPO:

32
charcot-marie-tooth disease, demyelinating, type 1c:
Inheritance heterogeneous autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 601098
Disease Ontology 12 DOID:0110151
ICD10 33 G60.0
Orphanet 59 ORPHA101083
ICD10 via Orphanet 34 G60.0
MESH via Orphanet 45 C537984
UMLS via Orphanet 74 C0270913
UMLS 73 C0270913

Summaries for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

UniProtKB/Swiss-Prot : 75 Charcot-Marie-Tooth disease 1C: A dominant 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.

MalaCards based summary : Charcot-Marie-Tooth Disease, Demyelinating, Type 1c, also known as charcot-marie-tooth disease, type 1c, is related to charcot-marie-tooth disease and deafness and neuropathy. An important gene associated with Charcot-Marie-Tooth Disease, Demyelinating, Type 1c is LITAF (Lipopolysaccharide Induced TNF Factor), and among its related pathways/superpathways is Neural Crest Differentiation. Related phenotypes are pes cavus and decreased motor nerve conduction velocity

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 1 that has material basis in heterozygous mutation in the LITAF gene on chromosome 16p13.

OMIM : 57 For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200). (601098)

Wikipedia : 76 Charcot�??Marie�??Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies, a group... more...

Related Diseases for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

Diseases in the Charcot-Marie-Tooth Disease, Demyelinating, Type 1a family:

Charcot-Marie-Tooth Disease, Demyelinating, Type 1b Charcot-Marie-Tooth Disease, Demyelinating, Type 1c
Charcot-Marie-Tooth Disease, Demyelinating, Type 1d Charcot-Marie-Tooth Disease, Demyelinating, Type 1f
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

Diseases related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1c via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease and deafness 30.5 EGR2 GJB1 KIF1B LITAF MPZ PMP22
2 neuropathy 29.9 EGR2 GJB1 MPZ PMP22
3 sensory peripheral neuropathy 29.7 EGR2 GJB1 LITAF MPZ PMP22
4 charcot-marie-tooth disease 29.6 EGR2 GJB1 KIF1B LITAF MPZ NEFL
5 tooth disease 29.6 EGR2 GJB1 KIF1B LITAF MPZ NEFL
6 charcot-marie-tooth disease, axonal, type 2i 10.0 KIF1B MPZ
7 charcot-marie-tooth disease, axonal, type 2j 10.0 KIF1B MPZ
8 charcot-marie-tooth disease, axonal, type 2q 10.0 EGR2 MPZ
9 congenital hypomyelination neuropathy 10.0 MPZ PMP22
10 charcot-marie-tooth hereditary neuropathy 10.0 MPZ PMP22
11 foot drop 10.0 MPZ PMP22
12 roussy-levy hereditary areflexic dystasia 10.0 MPZ PMP22
13 charcot-marie-tooth disease, axonal, type 2l 10.0 KIF1B MPZ
14 neuropathy - hereditary 10.0 MPZ PMP22
15 chronic inflammatory demyelinating polyradiculoneuropathy 10.0 MPZ PMP22
16 cauda equina syndrome 10.0 EGR2 PMP22
17 polyradiculoneuropathy 10.0 MPZ PMP22
18 brachial plexus neuropathy 10.0 KIF1B PMP22
19 pelizaeus-merzbacher disease 9.9 MPZ PMP22
20 guillain-barre syndrome 9.9 MPZ PMP22
21 neuritis 9.9 MPZ PMP22
22 autoimmune peripheral neuropathy 9.9 GJB1 MPZ
23 neuromuscular disease 9.9 MPZ PMP22
24 polyneuropathy 9.8 MPZ PMP22
25 charcot-marie-tooth disease, axonal, type 2f 9.8 GJB1 KIF1B MPZ
26 hereditary motor and sensory neuropathy, type iic 9.8 GJB1 KIF1B MPZ
27 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.7 EGR2 GJB1 MPZ
28 charcot-marie-tooth disease, x-linked dominant, 1 9.7 GJB1 MPZ PMP22
29 amyotrophic neuralgia 9.7 GJB1 KIF1B PMP22
30 charcot-marie-tooth disease, demyelinating, type 1f 9.6 GJB1 MPZ NEFL PMP22
31 charcot-marie-tooth disease, axonal, type 2d 9.5 GJB1 KIF1B MPZ PMP22
32 motor peripheral neuropathy 9.5 GJB1 KIF1B MPZ PMP22
33 charcot-marie-tooth disease, demyelinating, type 1b 9.3 EGR2 GJB1 KIF1B MPZ PMP22
34 charcot-marie-tooth disease, axonal, type 2b 9.3 EGR2 GJB1 KIF1B MPZ PMP22
35 charcot-marie-tooth disease, demyelinating, type 1a 9.3 EGR2 GJB1 KIF1B MPZ PMP22
36 charcot-marie-tooth disease, demyelinating, type 1d 9.3 EGR2 GJB1 KIF1B MPZ PMP22
37 neuropathy, hereditary, with liability to pressure palsies 9.2 EGR2 GJB1 KIF1B LITAF MPZ PMP22
38 hypertrophic neuropathy of dejerine-sottas 9.2 EGR2 GJB1 KIF1B LITAF MPZ PMP22
39 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 9.2 EGR2 GJB1 KIF1B LITAF MPZ PMP22
40 charcot-marie-tooth disease, axonal, type 2e 9.2 EGR2 GJB1 KIF1B MPZ NEFL PMP22
41 peripheral nervous system disease 9.1 EGR2 GJB1 KIF1B LITAF MPZ NEFL

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1c:



Diseases related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
pes cavus

Neurologic Peripheral Nervous System:
hyporeflexia
distal sensory impairment
hypertrophic nerve changes
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
more

Clinical features from OMIM:

601098

Human phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1c:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 pes cavus 32 HP:0001761
2 decreased motor nerve conduction velocity 32 HP:0003431
3 hyporeflexia 32 HP:0001265
4 distal muscle weakness 32 HP:0002460
5 distal amyotrophy 32 HP:0003693
6 segmental peripheral demyelination/remyelination 32 HP:0003481
7 distal sensory impairment 32 HP:0002936
8 hypertrophic nerve changes 32 HP:0003382
9 onion bulb formation 32 HP:0003383

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1c:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 EGR2 GJB1 KIF1B MPZ NEFL PMP22
2 homeostasis/metabolism MP:0005376 9.43 EGR2 GJB1 KIF1B LITAF MPZ PMP22
3 nervous system MP:0003631 9.17 EGR2 GJB1 KIF1B LITAF MPZ NEFL

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

Genetic Tests for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

Genetic tests related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1c:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type 1c 29 LITAF

Anatomical Context for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

Publications for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

Articles related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1c:

# Title Authors Year
1
Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation. ( 28164329 )
2017
2
The topology, structure and PE interaction of LITAF underpin a Charcot-Marie-Tooth disease type 1C. ( 27927196 )
2016
3
Motor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot-Marie-Tooth disease type 1C. ( 23359569 )
2013
4
Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies. ( 11713717 )
2002

Variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c:

75
# Symbol AA change Variation ID SNP ID
1 LITAF p.Thr49Met VAR_024015 rs141862602
2 LITAF p.Gly112Ser VAR_024017 rs104894519
3 LITAF p.Thr115Asn VAR_024018 rs104894520
4 LITAF p.Trp116Gly VAR_024019 rs104894521
5 LITAF p.Leu122Val VAR_024020 rs104894522

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c:

6 (show top 50) (show all 84)
# Gene Variation Type Significance SNP ID Assembly Location
1 LITAF NM_004862.3(LITAF): c.334G> A (p.Gly112Ser) single nucleotide variant Pathogenic rs104894519 GRCh37 Chromosome 16, 11647432: 11647432
2 LITAF NM_004862.3(LITAF): c.334G> A (p.Gly112Ser) single nucleotide variant Pathogenic rs104894519 GRCh38 Chromosome 16, 11553576: 11553576
3 LITAF NM_004862.3(LITAF): c.344C> A (p.Thr115Asn) single nucleotide variant Pathogenic rs104894520 GRCh37 Chromosome 16, 11647422: 11647422
4 LITAF NM_004862.3(LITAF): c.344C> A (p.Thr115Asn) single nucleotide variant Pathogenic rs104894520 GRCh38 Chromosome 16, 11553566: 11553566
5 LITAF NM_004862.3(LITAF): c.346T> G (p.Trp116Gly) single nucleotide variant Pathogenic rs104894521 GRCh37 Chromosome 16, 11647420: 11647420
6 LITAF NM_004862.3(LITAF): c.346T> G (p.Trp116Gly) single nucleotide variant Pathogenic rs104894521 GRCh38 Chromosome 16, 11553564: 11553564
7 LITAF NM_001136473.1(LITAF): c.364C> G (p.Leu122Val) single nucleotide variant Pathogenic rs104894522 GRCh37 Chromosome 16, 11647402: 11647402
8 LITAF NM_001136473.1(LITAF): c.364C> G (p.Leu122Val) single nucleotide variant Pathogenic rs104894522 GRCh38 Chromosome 16, 11553546: 11553546
9 LITAF NM_001136472.1(LITAF): c.430G> A (p.Val144Met) single nucleotide variant Pathogenic rs121908615 GRCh37 Chromosome 16, 11643549: 11643549
10 LITAF NM_001136472.1(LITAF): c.430G> A (p.Val144Met) single nucleotide variant Pathogenic rs121908615 GRCh38 Chromosome 16, 11549693: 11549693
11 NEFL NM_006158.4(NEFL): c.64C> T (p.Pro22Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28928910 GRCh37 Chromosome 8, 24813966: 24813966
12 NEFL NM_006158.4(NEFL): c.64C> T (p.Pro22Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28928910 GRCh38 Chromosome 8, 24956452: 24956452
13 LITAF NM_004862.3(LITAF): c.332C> G (p.Ala111Gly) single nucleotide variant Pathogenic rs281865134 GRCh37 Chromosome 16, 11647434: 11647434
14 LITAF NM_004862.3(LITAF): c.332C> G (p.Ala111Gly) single nucleotide variant Pathogenic rs281865134 GRCh38 Chromosome 16, 11553578: 11553578
15 LITAF NM_004862.3(LITAF): c.403C> A (p.Pro135Thr) single nucleotide variant Pathogenic rs281865135 GRCh37 Chromosome 16, 11643576: 11643576
16 LITAF NM_004862.3(LITAF): c.403C> A (p.Pro135Thr) single nucleotide variant Pathogenic rs281865135 GRCh38 Chromosome 16, 11549720: 11549720
17 LITAF NM_004862.3(LITAF): c.403C> T (p.Pro135Ser) single nucleotide variant Pathogenic rs281865135 GRCh37 Chromosome 16, 11643576: 11643576
18 LITAF NM_004862.3(LITAF): c.403C> T (p.Pro135Ser) single nucleotide variant Pathogenic rs281865135 GRCh38 Chromosome 16, 11549720: 11549720
19 LITAF NM_004862.3(LITAF): c.404C> G (p.Pro135Arg) single nucleotide variant Pathogenic rs797044848 GRCh38 Chromosome 16, 11549719: 11549719
20 LITAF NM_004862.3(LITAF): c.404C> G (p.Pro135Arg) single nucleotide variant Pathogenic rs797044848 GRCh37 Chromosome 16, 11643575: 11643575
21 LITAF NM_004862.3(LITAF): c.385G> A (p.Ala129Thr) single nucleotide variant Pathogenic rs797044847 GRCh38 Chromosome 16, 11549738: 11549738
22 LITAF NM_004862.3(LITAF): c.385G> A (p.Ala129Thr) single nucleotide variant Pathogenic rs797044847 GRCh37 Chromosome 16, 11643594: 11643594
23 LITAF NM_004862.3(LITAF): c.240C> T (p.Tyr80=) single nucleotide variant Likely benign rs149184234 GRCh37 Chromosome 16, 11647526: 11647526
24 LITAF NM_004862.3(LITAF): c.240C> T (p.Tyr80=) single nucleotide variant Likely benign rs149184234 GRCh38 Chromosome 16, 11553670: 11553670
25 LITAF NM_004862.3(LITAF): c.146C> T (p.Thr49Met) single nucleotide variant Likely benign rs141862602 GRCh37 Chromosome 16, 11650441: 11650441
26 LITAF NM_004862.3(LITAF): c.146C> T (p.Thr49Met) single nucleotide variant Likely benign rs141862602 GRCh38 Chromosome 16, 11556585: 11556585
27 LITAF NM_004862.3(LITAF): c.6G> A (p.Ser2=) single nucleotide variant Benign rs147187481 GRCh37 Chromosome 16, 11650581: 11650581
28 LITAF NM_004862.3(LITAF): c.6G> A (p.Ser2=) single nucleotide variant Benign rs147187481 GRCh38 Chromosome 16, 11556725: 11556725
29 LITAF NM_004862.3(LITAF): c.479G> A (p.Arg160His) single nucleotide variant Uncertain significance rs864622744 GRCh38 Chromosome 16, 11549644: 11549644
30 LITAF NM_004862.3(LITAF): c.479G> A (p.Arg160His) single nucleotide variant Uncertain significance rs864622744 GRCh37 Chromosome 16, 11643500: 11643500
31 LITAF NM_004862.3(LITAF): c.333C> T (p.Ala111=) single nucleotide variant Benign/Likely benign rs34448402 GRCh37 Chromosome 16, 11647433: 11647433
32 LITAF NM_004862.3(LITAF): c.333C> T (p.Ala111=) single nucleotide variant Benign/Likely benign rs34448402 GRCh38 Chromosome 16, 11553577: 11553577
33 LITAF NM_004862.3(LITAF): c.330C> T (p.Asn110=) single nucleotide variant Likely benign rs139116481 GRCh37 Chromosome 16, 11647436: 11647436
34 LITAF NM_004862.3(LITAF): c.330C> T (p.Asn110=) single nucleotide variant Likely benign rs139116481 GRCh38 Chromosome 16, 11553580: 11553580
35 LITAF NM_004862.3(LITAF): c.234G> A (p.Thr78=) single nucleotide variant Benign/Likely benign rs9282774 GRCh37 Chromosome 16, 11647532: 11647532
36 LITAF NM_004862.3(LITAF): c.234G> A (p.Thr78=) single nucleotide variant Benign/Likely benign rs9282774 GRCh38 Chromosome 16, 11553676: 11553676
37 LITAF NM_004862.3(LITAF): c.115C> T (p.Pro39Ser) single nucleotide variant Uncertain significance rs375202318 GRCh38 Chromosome 16, 11556616: 11556616
38 LITAF NM_004862.3(LITAF): c.115C> T (p.Pro39Ser) single nucleotide variant Uncertain significance rs375202318 GRCh37 Chromosome 16, 11650472: 11650472
39 LITAF NM_004862.3(LITAF): c.241G> A (p.Val81Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201653834 GRCh38 Chromosome 16, 11553669: 11553669
40 LITAF NM_004862.3(LITAF): c.241G> A (p.Val81Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201653834 GRCh37 Chromosome 16, 11647525: 11647525
41 LITAF NM_004862.3(LITAF): c.274A> G (p.Ile92Val) single nucleotide variant Benign rs4280262 GRCh38 Chromosome 16, 11553636: 11553636
42 LITAF NM_004862.3(LITAF): c.274A> G (p.Ile92Val) single nucleotide variant Benign rs4280262 GRCh37 Chromosome 16, 11647492: 11647492
43 LITAF NM_004862.3(LITAF): c.44C> T (p.Ser15Leu) single nucleotide variant Uncertain significance rs138041990 GRCh37 Chromosome 16, 11650543: 11650543
44 LITAF NM_004862.3(LITAF): c.44C> T (p.Ser15Leu) single nucleotide variant Uncertain significance rs138041990 GRCh38 Chromosome 16, 11556687: 11556687
45 LITAF NM_004862.3(LITAF): c.457G> A (p.Ala153Thr) single nucleotide variant Uncertain significance rs543022814 GRCh38 Chromosome 16, 11549666: 11549666
46 LITAF NM_004862.3(LITAF): c.457G> A (p.Ala153Thr) single nucleotide variant Uncertain significance rs543022814 GRCh37 Chromosome 16, 11643522: 11643522
47 LITAF NM_004862.3(LITAF): c.302A> G (p.Lys101Arg) single nucleotide variant Uncertain significance rs201283647 GRCh37 Chromosome 16, 11647464: 11647464
48 LITAF NM_004862.3(LITAF): c.302A> G (p.Lys101Arg) single nucleotide variant Uncertain significance rs201283647 GRCh38 Chromosome 16, 11553608: 11553608
49 LITAF NM_004862.3(LITAF): c.151C> T (p.Pro51Ser) single nucleotide variant Uncertain significance rs752978718 GRCh37 Chromosome 16, 11650436: 11650436
50 LITAF NM_004862.3(LITAF): c.151C> T (p.Pro51Ser) single nucleotide variant Uncertain significance rs752978718 GRCh38 Chromosome 16, 11556580: 11556580

Expression for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c.

Pathways for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

Pathways related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1c according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.81 GJB1 MPZ PMP22

GO Terms for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

Cellular components related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1c according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon cytoplasm GO:1904115 8.62 KIF1B NEFL

Biological processes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1c according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 anterograde axonal transport GO:0008089 9.16 KIF1B NEFL
2 peripheral nervous system development GO:0007422 8.96 EGR2 PMP22
3 myelination GO:0042552 8.8 EGR2 MPZ PMP22

Sources for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

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30 HGMD
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