CMT2N
MCID: CHR351
MIFTS: 42

Charcot-Marie-Tooth Disease, Axonal, Type 2n (CMT2N)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease, Axonal, Type 2n

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Axonal, Type 2n:

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2n 56 52 13 71
Cmt2n 56 12 52 58 73
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2n 12 52 58
Charcot-Marie-Tooth Disease Axonal Type 2n 12 73 15
Charcot-Marie-Tooth Disease, Type 2n 29 6 39
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2n 56 52
Charcot-Marie-Tooth Neuropathy, Axonal, Type 2n 56 52
Charcot-Marie-Tooth Neuropathy Axonal Type 2n 12 73
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2n 12
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2n 73
Charcot-Marie-Tooth Disease Type 2n 52
Charcot-Marie-Tooth Disease 2n 73

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant charcot-marie-tooth disease type 2n
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
variable age at onset (range 6 to 54 years)


HPO:

31
charcot-marie-tooth disease, axonal, type 2n:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110177
OMIM 56 613287
OMIM Phenotypic Series 56 PS118220
MeSH 43 D002607
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 72 C2750090
Orphanet 58 ORPHA228174
MedGen 41 C2750090
UMLS 71 C2750090

Summaries for Charcot-Marie-Tooth Disease, Axonal, Type 2n

UniProtKB/Swiss-Prot : 73 Charcot-Marie-Tooth disease 2N: An axonal 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). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2n, also known as cmt2n, is related to peripheral nervous system disease and tooth disease. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2n is AARS1 (Alanyl-TRNA Synthetase 1), and among its related pathways/superpathways are Gene Expression and tRNA Aminoacylation. Affiliated tissues include skeletal muscle and skin, and related phenotypes are sensorineural hearing impairment and skeletal muscle atrophy

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the AARS gene on chromosome 16q21.

More information from OMIM: 613287 PS118220

Related Diseases for Charcot-Marie-Tooth Disease, Axonal, Type 2n

Diseases in the Charcot-Marie-Tooth Disease, Axonal, Type 2e family:

Charcot-Marie-Tooth Disease, Axonal, Type 2a1 Charcot-Marie-Tooth Disease, Axonal, Type 2b
Charcot-Marie-Tooth Disease, Axonal, Type 2d Charcot-Marie-Tooth Disease, Axonal, Type 2b1
Charcot-Marie-Tooth Disease, Axonal, Type 2b2 Charcot-Marie-Tooth Disease, Axonal, Type 2f
Charcot-Marie-Tooth Disease, Axonal, Type 2i Charcot-Marie-Tooth Disease, Axonal, Type 2h
Charcot-Marie-Tooth Disease, Axonal, Type 2j Charcot-Marie-Tooth Disease, Axonal, Type 2k
Charcot-Marie-Tooth Disease, Axonal, Type 2l Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a
Charcot-Marie-Tooth Disease, Axonal, Type 2n Charcot-Marie-Tooth Disease, Axonal, Type 2o
Charcot-Marie-Tooth Disease, Axonal, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2q
Charcot-Marie-Tooth Disease, Axonal, Type 2r Charcot-Marie-Tooth Disease, Axonal, Type 2u
Charcot-Marie-Tooth Disease, Axonal, Type 2v Charcot-Marie-Tooth Disease, Axonal, Type 2w
Charcot-Marie-Tooth Disease, Axonal, Type 2x Charcot-Marie-Tooth Disease, Axonal, Type 2z
Charcot-Marie-Tooth Disease, Axonal, Type 2cc Charcot-Marie-Tooth Disease, Axonal, Type 2t
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b Charcot-Marie-Tooth Disease, Axonal, Type 2dd
Charcot-Marie-Tooth Disease, Axonal, Type 2ee Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect

Diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2n via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 peripheral nervous system disease 28.9 MFN2 KIF1B GDAP1 GARS1 EPRS1
2 tooth disease 27.7 YARS1 MFN2 MARS1 KIF1B KARS1 GDAP1
3 charcot-marie-tooth disease 26.6 YARS2 YARS1 MFN2 MARS1 KIF1B KARS1
4 deafness, autosomal recessive 89 10.2 KARS1 EPRS1
5 pontocerebellar hypoplasia, type 6 10.2 KARS1 AARS1
6 neuropathy 10.2
7 encephalopathy 10.2
8 myopathy, lactic acidosis, and sideroblastic anemia 10.2 YARS2 AARS2
9 charcot-marie-tooth disease, dominant intermediate d 10.1 YARS1 KIF1B
10 charcot-marie-tooth disease, axonal, type 2w 10.1 MARS1 AARS1
11 charcot-marie-tooth disease, dominant intermediate a 10.1 YARS1 GDAP1
12 rigid spine muscular dystrophy 1 10.1 YARS2 YARS1 AARS1
13 charcot-marie-tooth disease type 2a 10.0 MFN2 KIF1B
14 charcot-marie-tooth neuropathy type 2a 9.9 MFN2 KIF1B
15 charcot-marie-tooth disease, dominant intermediate b 9.9 YARS1 GDAP1
16 charcot-marie-tooth disease, demyelinating, type 1d 9.9 KIF1B GDAP1
17 charcot-marie-tooth disease, axonal, type 2u 9.9 MARS1 GARS1 EPRS1
18 mitochondrial myopathy 9.8 YARS2 MFN2 EPRS1
19 spinal muscular atrophy, distal, autosomal recessive, 2 9.8 MFN2 GARS1
20 charcot-marie-tooth disease, recessive intermediate a 9.8 MFN2 GDAP1
21 46 xx gonadal dysgenesis 9.8 EPRS1 AARS2
22 robinow syndrome, autosomal recessive 1 9.8 YARS1 MARS1 KARS1 EPRS1
23 charcot-marie-tooth disease, demyelinating, type 1c 9.7 KIF1B GDAP1
24 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.7 YARS2 STUM GARS1 EPRS1
25 charcot-marie-tooth disease, axonal, type 2b1 9.7 MFN2 GDAP1
26 muscular disease 9.6 MFN2 GARS1 EPRS1 AARS1
27 optic nerve disease 9.6 MFN2 KARS1 GDAP1
28 charcot-marie-tooth disease, axonal, type 2j 9.6 MFN2 KIF1B GDAP1
29 charcot-marie-tooth disease type x 9.6 MFN2 KIF1B GDAP1
30 charcot-marie-tooth disease, axonal, type 2b2 9.6 MFN2 KIF1B GDAP1
31 charcot-marie-tooth disease, type 4a 9.5 MFN2 KIF1B GDAP1
32 charcot-marie-tooth disease, type 4c 9.5 MFN2 KIF1B GDAP1
33 charcot-marie-tooth disease, demyelinating, type 1a 9.5 MFN2 KIF1B GDAP1
34 axonal neuropathy 9.5 MFN2 GDAP1 GARS1
35 usher syndrome, type iiib 9.5 YARS1 MARS1 GARS1 EPRS1 AARS1
36 charcot-marie-tooth disease, axonal, type 2a1 9.4 MFN2 KIF1B GDAP1 AARS1
37 charcot-marie-tooth disease, recessive intermediate b 9.4 YARS2 YARS1 KARS1 GARS1 AARS2 AARS1
38 charcot-marie-tooth disease type 2a2a 9.3 MFN2 KIF1B GDAP1 GARS1
39 charcot-marie-tooth disease, axonal, type 2l 9.3 MFN2 KIF1B GDAP1 GARS1
40 charcot-marie-tooth disease, axonal, type 2i 9.3 MFN2 KIF1B GDAP1 GARS1
41 charcot-marie-tooth disease, axonal, type 2f 9.3 MFN2 KIF1B GDAP1 GARS1
42 charcot-marie-tooth disease, x-linked dominant, 1 9.3 MFN2 KIF1B GDAP1 GARS1
43 hereditary motor and sensory neuropathy, type iic 9.3 MFN2 KIF1B GDAP1 GARS1
44 charcot-marie-tooth disease, demyelinating, type 1b 9.3 MFN2 KIF1B GDAP1 GARS1
45 charcot-marie-tooth disease, axonal, type 2b 9.3 MFN2 KIF1B GDAP1 GARS1
46 neuropathy, hereditary, with liability to pressure palsies 9.3 MFN2 KIF1B GDAP1 GARS1
47 hypertrophic neuropathy of dejerine-sottas 9.3 MFN2 KIF1B GDAP1 GARS1
48 sensory peripheral neuropathy 9.3 MFN2 KIF1B GDAP1 GARS1
49 mitochondrial metabolism disease 9.0 YARS2 VARS2 MFN2 EPRS1 AARS2
50 charcot-marie-tooth disease and deafness 8.9 YARS1 MFN2 KIF1B GDAP1 GARS1 AARS1

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2n:



Diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2n

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Axonal, Type 2n

Human phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2n:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 skeletal muscle atrophy 31 HP:0003202
3 areflexia 31 HP:0001284
4 pes cavus 31 HP:0001761
5 decreased motor nerve conduction velocity 31 HP:0003431
6 foot dorsiflexor weakness 31 HP:0009027
7 hammertoe 31 HP:0001765
8 peripheral axonal neuropathy 31 HP:0003477
9 distal muscle weakness 31 HP:0002460
10 distal sensory impairment 31 HP:0002936

Symptoms via clinical synopsis from OMIM:

56
Skeletal Feet:
pes cavus
foot deformities
hammertoes

Head And Neck Ears:
sensorineural deafness, variable (in 1 family)

Neurologic Peripheral Nervous System:
distal sensory impairment
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
foot drop
normal or mildly decreased motor nerve conduction velocity (ncv) (greater than 38 m/s)
more
Skeletal Limbs:
ankle sprains

Clinical features from OMIM:

613287

GenomeRNAi Phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2n according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.77 GARS1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.77 KARS1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.77 KIF1B
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.77 GARS1 KIF1B
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.77 KARS1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.77 GARS1 KARS1 KIF1B
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.77 KARS1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.77 GARS1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.77 KARS1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.77 GARS1
11 Reduced mammosphere formation GR00396-S 9.02 GARS1 KARS1 VARS2 YARS1 YARS2

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2n:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.28 AARS1 AARS2 EPRS1 GARS1 KARS1 KIF1B

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Axonal, Type 2n

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Axonal, Type 2n

Genetic Tests for Charcot-Marie-Tooth Disease, Axonal, Type 2n

Genetic tests related to Charcot-Marie-Tooth Disease, Axonal, Type 2n:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type 2n 29

Anatomical Context for Charcot-Marie-Tooth Disease, Axonal, Type 2n

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Axonal, Type 2n:

40
Skeletal Muscle, Skin

Publications for Charcot-Marie-Tooth Disease, Axonal, Type 2n

Articles related to Charcot-Marie-Tooth Disease, Axonal, Type 2n:

# Title Authors PMID Year
1
A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). 61 56 6
22009580 2012
2
The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. 56 6
22206013 2011
3
A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. 56 6
20045102 2010
4
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 6
20301532 1998
5
Charcot-Marie-Tooth Neuropathy Type 2 6
20301462 1998
6
Novel MFN2 Missense Mutation Induces Hereditary Axonal Motor and Sensory Neuropathy in a Saudi Arabian Family. 61
31453851 2019
7
Genetic epidemiology, demographic, and clinical characteristics of Charcot-Marie-tooth disease in the island of Gran Canaria (Spain). 61
30569560 2019
8
Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities. 61
30124830 2018
9
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect. 61
25817015 2015
10
Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2. 61
21327736 2011

Variations for Charcot-Marie-Tooth Disease, Axonal, Type 2n

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2n:

6 (show all 14) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AARS1 NM_001605.2(AARS1):c.986G>A (p.Arg329His)SNV Pathogenic 8466 rs267606621 16:70302259-70302259 16:70268356-70268356
2 AARS1 NM_001605.2(AARS1):c.211A>T (p.Asn71Tyr)SNV Pathogenic 30155 rs387906792 16:70310991-70310991 16:70277088-70277088
3 AARS1 NM_001605.2(AARS1):c.328T>C (p.Phe110Leu)SNV Likely pathogenic 549673 rs1555542415 16:70310874-70310874 16:70276971-70276971
4 AARS1 NM_001605.2(AARS1):c.2521-3C>TSNV Conflicting interpretations of pathogenicity 194936 rs200586605 16:70287706-70287706 16:70253803-70253803
5 AARS1 NM_001605.2(AARS1):c.2186G>A (p.Arg729Gln)SNV Uncertain significance 246063 rs142850278 16:70289731-70289731 16:70255828-70255828
6 AARS1 NM_001605.2(AARS1):c.1762C>T (p.Gln588Ter)SNV Uncertain significance 632263 rs146946034 16:70294970-70294970 16:70261067-70261067
7 AARS1 NM_001605.2(AARS1):c.618G>T (p.Gln206His)SNV Uncertain significance 689625 16:70305737-70305737 16:70271834-70271834
8 AARS1 NM_001605.2(AARS1):c.824G>A (p.Gly275Asp)SNV Benign/Likely benign 320348 rs11537667 16:70303659-70303659 16:70269756-70269756
9 AARS1 NM_001605.2(AARS1):c.671+3A>GSNV Benign/Likely benign 320351 rs74024185 16:70305681-70305681 16:70271778-70271778
10 AARS1 NM_001605.2(AARS1):c.2900A>T (p.Lys967Met)SNV Benign/Likely benign 220723 rs35744709 16:70286631-70286631 16:70252728-70252728
11 AARS1 NM_001605.2(AARS1):c.1685C>T (p.Thr562Ile)SNV Benign/Likely benign 155733 rs148355156 16:70295047-70295047 16:70261144-70261144
12 AARS1 NM_001605.2(AARS1):c.2791G>A (p.Gly931Ser)SNV Benign/Likely benign 155735 rs149377346 16:70286740-70286740 16:70252837-70252837
13 AARS1 NM_001605.2(AARS1):c.903C>T (p.His301=)SNV Benign 287973 rs2070203 16:70303580-70303580 16:70269677-70269677
14 AARS1 NM_001605.2(AARS1):c.2715T>C (p.Val905=)SNV Benign 320325 rs4081753 16:70287177-70287177 16:70253274-70253274

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2n:

73
# Symbol AA change Variation ID SNP ID
1 AARS1 p.Arg329His VAR_063527 rs267606621
2 AARS1 p.Asn71Tyr VAR_067084 rs387906792

Expression for Charcot-Marie-Tooth Disease, Axonal, Type 2n

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Axonal, Type 2n.

Pathways for Charcot-Marie-Tooth Disease, Axonal, Type 2n

Pathways related to Charcot-Marie-Tooth Disease, Axonal, Type 2n according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.04 YARS2 YARS1 VARS2 MARS1 KARS1 GARS1
2
Show member pathways
11.52 YARS2 YARS1 VARS2 MARS1 KARS1 GARS1

GO Terms for Charcot-Marie-Tooth Disease, Axonal, Type 2n

Cellular components related to Charcot-Marie-Tooth Disease, Axonal, Type 2n according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.96 YARS2 YARS1 MARS1 KIF1B KARS1 GDAP1
2 cytosol GO:0005829 9.85 YARS2 YARS1 VARS2 MFN2 MARS1 KARS1
3 mitochondrion GO:0005739 9.28 YARS2 VARS2 MFN2 KIF1B KARS1 GDAP1
4 aminoacyl-tRNA synthetase multienzyme complex GO:0017101 9.13 MARS1 KARS1 EPRS1

Biological processes related to Charcot-Marie-Tooth Disease, Axonal, Type 2n according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.61 YARS2 YARS1 VARS2 MARS1 KARS1 GARS1
2 tRNA modification GO:0006400 9.49 AARS2 AARS1
3 protein targeting to mitochondrion GO:0006626 9.48 MFN2 GDAP1
4 mitochondrial fusion GO:0008053 9.46 MFN2 GDAP1
5 tRNA aminoacylation GO:0043039 9.46 YARS2 EPRS1 AARS2 AARS1
6 alanyl-tRNA aminoacylation GO:0006419 9.43 AARS2 AARS1
7 aminoacyl-tRNA metabolism involved in translational fidelity GO:0106074 9.43 VARS2 AARS2 AARS1
8 diadenosine tetraphosphate biosynthetic process GO:0015966 9.4 KARS1 GARS1
9 mitochondrial alanyl-tRNA aminoacylation GO:0070143 9.37 AARS2 AARS1
10 tyrosyl-tRNA aminoacylation GO:0006437 9.32 YARS2 YARS1
11 tRNA aminoacylation for protein translation GO:0006418 9.23 YARS2 YARS1 VARS2 MARS1 KARS1 GARS1

Molecular functions related to Charcot-Marie-Tooth Disease, Axonal, Type 2n according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.96 YARS2 YARS1 VARS2 MARS1 KIF1B KARS1
2 RNA binding GO:0003723 9.95 YARS2 YARS1 MARS1 EPRS1 AARS2 AARS1
3 nucleotide binding GO:0000166 9.8 YARS2 YARS1 MARS1 KARS1 AARS2 AARS1
4 tRNA binding GO:0000049 9.63 YARS2 YARS1 MARS1 KARS1 AARS2 AARS1
5 ligase activity GO:0016874 9.61 YARS2 YARS1 VARS2 MARS1 KARS1 GARS1
6 amino acid binding GO:0016597 9.58 KARS1 AARS2 AARS1
7 aminoacyl-tRNA editing activity GO:0002161 9.54 VARS2 AARS2 AARS1
8 alanine-tRNA ligase activity GO:0004813 9.46 AARS2 AARS1
9 tyrosine-tRNA ligase activity GO:0004831 9.43 YARS2 YARS1
10 aminoacyl-tRNA ligase activity GO:0004812 9.28 YARS2 YARS1 VARS2 MARS1 KARS1 GARS1

Sources for Charcot-Marie-Tooth Disease, Axonal, Type 2n

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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