CMT
MCID: CHR071
MIFTS: 61

Charcot-Marie-Tooth Disease (CMT) malady

Neuronal category

Summaries for Charcot-Marie-Tooth Disease

Sources:
43NIH Rare Diseases, 34MedlinePlus, 44NINDS, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Charcot-marie-tooth disease is a group of disorders that affect the peripheral nerves, the nerves running from outside the brain and spine. defects in at least 30 genes cause different forms of this disease. common symptoms may include foot drop, foot deformity, loss of lower leg muscle, numbness in the foot or leg, “slapping" gait (feet hit the floor hard when walking), and weakness of the hips, legs, or feet. there is currently no cure for charcot-marie-tooth disease, but physical therapy, occupational therapy, braces and other orthopedic devices, pain medication, and orthopedic surgery can help manage and improve symptoms.there are over 40 types of charcot-marie-tooth disease. you can search for more information on a particular type of charcot-marie-tooth disease from the gard home page. enter the name of the condition in the gard search box, and then select the type from the drop down menu. last updated: 7/23/2010

MalaCards: Charcot-Marie-Tooth Disease, also known as roussy-levy syndrome, is related to tooth disease and charcot-marie-tooth disease type 1a, and has symptoms including nerve conduction abnormality, abnormal gait and movement disorder. An important gene associated with Charcot-Marie-Tooth Disease is MPZ (myelin protein zero), and among its related pathways is Neural Crest Differentiation. The compounds arginine and cysteine have been mentioned in the context of this disorder. Related mouse phenotypes are nervous system and muscle.

MedlinePlus:34 Charcot-marie-tooth disease (cmt) is a group of genetic nerve disorders. it is named after the three doctors who first identified it. in the united states, cmt affects about 1 in 2,500 people. cmt affects your peripheral nerves. peripheral nerves carry movement and sensation signals between the brain and spinal cord and the rest of the body. symptoms usually start around the teen years. foot problems such as high arches or hammertoes can be early symptoms. as cmt progresses, your lower legs may weaken. later, your hands may also become weak. doctors diagnose cmt by doing a neurologic exam, nerve tests, genetic tests, or a nerve biopsy. there is no cure. the disease can be so mild you don't realize you have it or severe enough to make you weak. physical therapy, occupational therapy, braces and other devices and sometimes surgery can help. nih: national institute of neurological disorders and stroke

NINDS:44 Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the

Genetics Home Reference:21 Charcot-Marie-Tooth disease is a group of progressive disorders that affect the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Damage to the peripheral nerves can result in loss of sensation and wasting (atrophy) of muscles in the feet, legs, and hands.

Wikipedia:64 Charcot–Marie–Tooth disease (CMT), also known as Charcot–Marie–Tooth neuropathy, hereditary... more...

Description from OMIM:47 180800

Aliases & Classifications for Charcot-Marie-Tooth Disease

Sources:
64Wikipedia, 43NIH Rare Diseases, 21Genetics Home Reference, 8Disease Ontology, 44NINDS, 10DISEASES, 45Novoseek, 34MedlinePlus, 61UMLS, 47OMIM, 22GTR, 20GeneTests, 49Orphanet, 57SNOMED-CT, 40NCIt, 35MeSH, 27ICD9CM, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Aliases & Descriptions:

charcot-marie-tooth disease 8 64 43 21 44 10 45 34 61
roussy-levy syndrome 64 47 45 61
hereditary motor and sensory neuropathy 64 43 21
peroneal muscular atrophy 8 64 21
roussy levy syndrome 43 20 22
hmsn 64 43 21
cmt 64 43 21
charcot marie tooth disease 43 22
pma 64 21
hereditary areflexic dystasia, roussy-lévy type 49
hereditary motor and sensory neuropathy type i 61
charcot-marie-tooth hereditary neuropathy 21
hereditary motor and sensory neuropathies 61
charcot-marie-tooth-roussy-levy disease 43
hereditary motor sensory neuropathy i 43
charcot-marie-tooth disease, type ib 61
charcot marie tooth muscular atrophy 8
cmt - charcot-marie-tooth disease 8
peroneal muscular atrophy nos 8
hereditary areflexic dystasia 43
charcot-marie-tooth syndrome 21
dejerine-sottas syndrome 64
dejerine-sottas disease 61
roussy-lévy syndrome 49
hmsn type i 45
hmsn i 43


External Ids:

Disease Ontology8 DOID:10595
NCIt40 C75467
MeSH35 D002607
ICD9CM27 356.1
OMIM47 180800
ICD10 via Orphanet26 G60.0
SNOMED-CT via Orphanet58 45853006
UMLS via Orphanet62 C0205713

Related Diseases for Charcot-Marie-Tooth Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Charcot-Marie-Tooth Disease family:

charcot-marie-tooth disease type 2 charcot-marie-tooth disease type 1
charcot-marie-tooth disease type x charcot-marie-tooth disease intermediate type
charcot-marie-tooth disease type 4 charcot-marie-tooth disease type 3
charcot-marie-tooth neuropathy type 1 charcot-marie-tooth neuropathy type 2
charcot-marie-tooth neuropathy type 2a charcot-marie-tooth neuropathy type 2e/1f
charcot-marie-tooth neuropathy type 4 charcot-marie-tooth neuropathy type 4a
charcot-marie-tooth neuropathy type 4c charcot-marie-tooth neuropathy type 4h
charcot-marie-tooth neuropathy type 4j charcot-marie-tooth neuropathy x type 1
charcot-marie-tooth neuropathy x type 5 charcot-marie-tooth disease dominant intermediate 1
charcot-marie-tooth disease dominant intermediate 2 charcot-marie-tooth disease dominant intermediate 3
charcot-marie-tooth disease type 1a charcot-marie-tooth disease type 1b
charcot-marie-tooth disease type 1c charcot-marie-tooth disease type 1d
charcot-marie-tooth disease type 1e charcot-marie-tooth disease type 1f
charcot-marie-tooth disease type 2a charcot-marie-tooth disease type 2b
charcot-marie-tooth disease type 2b1 charcot-marie-tooth disease type 2b2
charcot-marie-tooth disease type 2c charcot-marie-tooth disease type 2d
charcot-marie-tooth disease type 2e charcot-marie-tooth disease type 2f
charcot-marie-tooth disease type 2g charcot-marie-tooth disease type 2h
charcot-marie-tooth disease type 2i charcot-marie-tooth disease type 2j
charcot-marie-tooth disease type 2k charcot-marie-tooth disease type 4b1
charcot-marie-tooth disease type 4b2 charcot-marie-tooth disease type 4b2 with early-onset glaucoma
charcot-marie-tooth disease type 4e charcot-marie-tooth disease with ptosis and parkinsonism
charcot-marie-tooth disease with pyramidal features, autosomal dominant charcot-marie-tooth neuropathy x
intermediate charcot-marie-tooth neuropathy charcot-marie-tooth neuropathy multi-gene panels
charcot-marie-tooth neuropathy type 1e charcot-marie-tooth neuropathy type 4b2
charcot-marie-tooth neuropathy type 2b2 charcot-marie-tooth neuropathy type 2b1
charcot-marie-tooth neuropathy type 2g charcot-marie-tooth neuropathy type 2l
charcot-marie-tooth neuropathy type 2i/2j charcot-marie-tooth neuropathy type 2h/2k
charcot-marie-tooth neuropathy x type 2 charcot-marie-tooth neuropathy x type 3
charcot-marie-tooth neuropathy x type 4 charcot-marie-tooth neuropathy type 2n
charcot-marie-tooth neuropathy type 2d charcot-marie-tooth neuropathy type 2o
charcot-marie-tooth neuropathy type 2p charcot-marie-tooth neuropathy type 4b3
charcot-marie-tooth neuropathy type 1b charcot-marie-tooth neuropathy type 1c
charcot-marie-tooth neuropathy type 2a2 charcot-marie-tooth neuropathy type 2b
charcot-marie-tooth neuropathy type 2c charcot-marie-tooth neuropathy type 4b1
charcot-marie-tooth neuropathy type 4d charcot-marie-tooth neuropathy type 4e
charcot-marie-tooth neuropathy type 4f charcot-marie-tooth neuropathy type 1a
charcot-marie-tooth neuropathy type 1d charcot-marie-tooth disease, type 2a1
charcot-marie-tooth disease, type 2a2 charcot-marie-tooth disease, recessive intermediate c
charcot-marie-tooth disease, dominant intermediate c charcot-marie-tooth disease, type 2r
charcot-marie-tooth disease, recessive intermediate, a charcot-marie-tooth disease, dominant intermediate a
charcot-marie-tooth disease, recessive intermediate, b charcot-marie-tooth disease, dominant intermediate b
charcot-marie-tooth disease, type 4f charcot-marie-tooth disease, type 4b3

Diseases related to Charcot-Marie-Tooth Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 263)
idRelated DiseaseScoreTop Affiliating Genes
1tooth disease32.6EGR2, GJB1, PMP22, MPZ
2charcot-marie-tooth disease type 1a31.2CMT1A, PMP22
3charcot-marie-tooth disease type 1e31.2CMT1A, PMP22
4charcot-marie-tooth disease type 4b131.1MTMR2, SBF2
5motor peripheral neuropathy30.9PMP22, MPZ
6hereditary neuropathies30.9LMNA, GJB1, MTMR2, MPZ, NDRG1, PMP22
7charcot-marie-tooth disease type 330.9PMP22, EGR2, MPZ, GJB1
8charcot-marie-tooth disease type 4e30.9MPZ, EGR2, PMP22
9hereditary neuropathy with liability to pressure palsies30.7PMP22
10sensory peripheral neuropathy30.4GJB1, GDAP1, LITAF, MTMR2, MPZ, EGR2
11charcot-marie-tooth neuropathy type 430.4GDAP1, NDRG1, EGR2, MTMR2, SH3TC2, SBF2
12charcot-marie-tooth neuropathy type 230.4HSPB1, HSPB8, MFN2, MPZ, KIF1B, LMNA
13charcot-marie-tooth neuropathy type 130.4LITAF, NEFL, MPZ, EGR2, PMP22
14axonal neuropathy30.4KIF1B, HSPB1
15charcot-marie-tooth neuropathy type 1a30.4PMP22, MPZ
16pelizaeus-merzbacher disease30.4MPZ
17autosomal recessive disease11.0
18charcot-marie-tooth disease type 111.0
19charcot-marie-tooth hereditary neuropathy11.0
20autosomal dominant disease10.9
21autosomal dominant intermediate charcot-marie-tooth disease type e10.9
22charcot-marie-tooth disease type 2b110.8
23charcot-marie-tooth disease type 2b210.8
24charcot-marie-tooth disease type 410.8
25charcot-marie-tooth neuropathy type 4a10.8
26charcot-marie-tooth disease type 1b10.8
27charcot-marie-tooth disease type 2b10.8
28charcot-marie-tooth disease type 2f10.8
29x-linked charcot-marie-tooth disease type 510.8
30char syndrome10.8
31charcot-marie-tooth disease type 1c10.8
32charcot-marie-tooth disease type 1d10.8
33charcot-marie-tooth disease type 2c10.8
34charcot-marie-tooth disease type 2d10.8
35charcot-marie-tooth disease type 2g10.8
36charcot-marie-tooth disease type 2h10.8
37charcot-marie-tooth disease type 2j10.8
38charcot-marie-tooth disease type 2k10.8
39charcot-marie-tooth disease type 210.7
40charcot-marie-tooth disease type 1f10.7
41charcot-marie-tooth disease type 2e10.7
42charcot-marie-tooth disease type 2i10.7
43charcot-marie-tooth disease type 4b210.7
44charcot-marie-tooth neuropathy type 4c10.7
45charcot-marie-tooth disease, type 2a110.7
46charcot-marie-tooth disease, type 2a210.7
47charcot-marie-tooth disease type 2a10.7
48cowchock syndrome10.7
49charcot-marie-tooth disease, dominant intermediate c10.7
50hereditary motor and sensory neuropathy with agenesis of the corpus callosum10.7

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



Diseases related to charcot-marie-tooth disease

Clinical Features for Charcot-Marie-Tooth Disease

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

180800

Clinical synopsis from OMIM:

180800

Symptoms:

49 (show all 6)
  • nerve conduction abnormality
  • abnormal gait
  • movement disorder
  • areflexia/hyporeflexia
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • autosomal recessive inheritance

Drugs & Therapeutics for Charcot-Marie-Tooth Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Charcot-Marie-Tooth Disease

Drug clinical trials:

Search ClinicalTrials for Charcot-Marie-Tooth Disease

Search NIH Clinical Center for Charcot-Marie-Tooth Disease

Search CenterWatch for Charcot-Marie-Tooth Disease

Genetic Tests for Charcot-Marie-Tooth Disease

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Charcot-Marie-Tooth Disease:

id Genetic test Affiliating Genes
1 Roussy-levy Syndrome20 MPZ
2 Roussy-lévy Syndrome22
3 Charcot-marie-tooth Disease22

Anatomical Context for Charcot-Marie-Tooth Disease

Sources:
31LifeMap Discovery™
See all sources

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Charcot-Marie-Tooth Disease:
id TissueAnatomical CompartmentCell Relevance
1 Peripheral Nervous SystemPeripheral Nerve DomainMyelinating Schwann Cells Affected by disease

Animal Models for Charcot-Marie-Tooth Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000363110.5SBF2, LMNA, KIF1B, NEFL, CHM, LITAF
2MP:000536910.5KIF1B, LMNA, MFN2, NDRG1, HSPB8, PMP22
3MP:000538610.5PMP22, NDRG1, MFN2, EGR2, MPZ, MTMR2
4MP:001076810.4EGR2, LMNA, GJB1, CHM, MTMR2, MPZ
5MP:000287310.2HSPB1, MFN2, EGR2, NEFL, MTMR2, CHM

Publications for Charcot-Marie-Tooth Disease

Sources:
51PubMed
See all sources

Articles related to Charcot-Marie-Tooth Disease:

(show top 50)    (show all 832)
idTitleAuthorsYear
1
Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease. (23781965)
2013
2
Long-term analyses of innervation and neuromuscular integrity in the Trembler-J mouse model of Charcot-Marie-Tooth disease. (24042197)
2013
3
Obstructive sleep apnoea, restless leg syndrome and Charcot-Marie-Tooth disease type 1: important associations. (23757421)
2013
4
Exploring the experience of fatigue in people with Charcot-Marie-Tooth disease. (23182641)
2012
5
Hand weakness in Charcot-Marie-Tooth disease 1X. (22464564)
2012
6
Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. (22847150)
2012
7
Nephritis and Charcot-Marie-Tooth disease: an unusual association. (22482386)
2012
8
Dynamin 2 in Charcot-Marie-Tooth disease. (22729098)
2012
9
Assessment of appropriate ankle-foot orthoses models for patients with Charcot-Marie-Tooth disease. (21681059)
2011
10
A novel mitofusin 2 gene mutation causing Charcot-Marie-Tooth type 2A disease in a Chinese family. (20819609)
2010
11
The 5' regulatory sequence of the PMP22 in the patients with Charcot-Marie-Tooth disease. (20842290)
2010
12
Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C. (20028792)
2010
13
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. (20037586)
2010
14
About the hypothesis of overwork weakness in Charcot-Marie-Tooth disease. (19774314)
2009
15
Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H. (19332693)
2009
16
Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway. (19744956)
2009
17
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. (20008656)
2009
18
Poor compliance with ankle-foot-orthoses in Charcot-Marie-Tooth disease. (18385625)
2008
19
Increased severity over generations of Charcot-Marie-Tooth disease type 1A. (18438698)
2008
20
Scoliosis in patients with Charcot-Marie-Tooth disease. (17606789)
2007
21
Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1. (18386324)
2007
22
Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1. (18386325)
2007
23
Charcot-Marie-Tooth disease: peripartum management of two contrasting clinical cases. (17275278)
2007
24
Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease. (16770524)
2006
25
Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene. (16534116)
2006
26
A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E. (15654615)
2005
27
Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease. (15786462)
2005
28
Pregnancies and deliveries in patients with Charcot-Marie-Tooth disease. (15699375)
2005
29
A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin. (15036333)
2004
30
Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes. (14595091)
2004
31
Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E. (15111691)
2004
32
Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. (15034573)
2004
33
Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication. (14502374)
2003
34
Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32. (14627639)
2003
35
Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease. (12185164)
2002
36
Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1B-beta. (11389829)
2001
37
A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. (11157804)
2001
38
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. (11220745)
2001
39
Regulation of Schwann cell proliferation and apoptosis in PMP22-deficient mice and mouse models of Charcot-Marie-Tooth disease type 1A. (11673320)
2001
40
De novo partial duplication of 17p associated with Charcot-Marie-Tooth disease type 1A. (11336036)
2001
41
Connexin channels in Schwann cells and the development of the X-linked form of Charcot-Marie-Tooth disease. (10751670)
2000
42
Charcot-Marie-Tooth disease type 1 and 2-an immunohistochemical study of muscle fibre cytoskeletal proteins and a marker for muscle fibre regeneration. (10210889)
1998
43
Novel mutation of the myelin Po gene in a pedigree with Charcot- Marie-Tooth disease type 1B. (9217235)
1997
44
Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. (8105684)
1993
45
The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. (1303229)
1992
46
Linkage studies in Charcot-Marie-Tooth disease type 2: evidence that CMT types 1 and 2 are distinct genetic entities. (1549221)
1992
47
Localization of PMP-22 gene (candidate gene for the Charcot-Marie-Tooth disease 1A) to band 17p11.2 by direct R-banding fluorescence in situ hybridization. (1297450)
1992
48
The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood. (3467805)
1987
49
Focal glomerulosclerosis and Charcot-Marie-Tooth disease: not a chance association? (3724932)
1986
50
Charcot-Marie-Tooth disease with primary optic atrophy; report of a case. (13716305)
1960

Genetic Variations for Charcot-Marie-Tooth Disease

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Charcot-Marie-Tooth Disease:

63
id Symbol AA change Variation SNP ID
1MPZp.Asn131LysVAR_015978

Expression for genes affiliated with Charcot-Marie-Tooth Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Charcot-Marie-Tooth Disease

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

Pathways for genes affiliated with Charcot-Marie-Tooth Disease

Sources:
38NCBI BioSystems Database
See all sources

Pathways related to Charcot-Marie-Tooth Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.5GJB1, MPZ

Compounds for genes affiliated with Charcot-Marie-Tooth Disease

Sources:
45Novoseek
See all sources

Compounds related to Charcot-Marie-Tooth Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1arginine4510.5LMNA, GJB1, MPZ, HSPB1, PMP22
2cysteine4510.4GJB1, CHM, MPZ, NDRG1, HSPB1, PMP22
3dihydroprogesterone4510.2PMP22, MPZ

GO Terms for genes affiliated with Charcot-Marie-Tooth Disease

Sources:
16Gene Ontology
See all sources

Cellular components related to Charcot-Marie-Tooth Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1vacuolar membraneGO:00577410.5SBF2, MTMR2

Biological processes related to Charcot-Marie-Tooth Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1anterograde axon cargo transportGO:00808910.5KIF1B, NEFL
2peripheral nervous system myelin maintenanceGO:03228710.4SH3TC2, NDRG1
3myelin assemblyGO:03228810.2MTMR2, PMP22

Molecular functions related to Charcot-Marie-Tooth Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551510.4KIF1B, HSPB8, HSPB1, NDRG1, MFN2, MED25

Products for genes affiliated with Charcot-Marie-Tooth Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Charcot-Marie-Tooth Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet