MCID: MRT001
MIFTS: 59

Muir-Torre Syndrome

Categories: Genetic diseases, Rare diseases, Cancer diseases, Gastrointestinal diseases, Eye diseases, Skin diseases

Aliases & Classifications for Muir-Torre Syndrome

MalaCards integrated aliases for Muir-Torre Syndrome:

Name: Muir-Torre Syndrome 53 12 49 55 71 13 51 41 14 28
Keratoacanthoma 49 69
Mrtes 53 71
Cutaneous Sebaceous Neoplasms and Keratoacanthomas, Multiple, with Gastrointestinal and Other Carcinomas 53
Cutaneous Sebaceous Neoplasms and Keratoacanthomas Multiple with Gastrointestinal and Other Carcinomas 49
Multiple Keratoacanthoma, Muir-Torre Type 55
Torre-Muir Syndrome 69
Mts 71

Characteristics:

Orphanet epidemiological data:

55
muir-torre syndrome
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
muir-torre syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 158320
Disease Ontology 12 DOID:0050465
MeSH 41 D055653
NCIt 46 C84905
SNOMED-CT 64 403824007
Orphanet 55 ORPHA587
MESH via Orphanet 42 D055653
UMLS via Orphanet 70 C1321489
ICD10 via Orphanet 33 L72.8
MedGen 39 C1321489
UMLS 69 C1321489

Summaries for Muir-Torre Syndrome

NIH Rare Diseases : 49 Muir-Torre syndrome (MTS) is a form of Lynch syndrome and is characterized by sebaceous (oil gland) skin tumors in association with internal cancers. The most common internal site involved is the gastrointestinal tract (with almost half of affected people having colorectal cancer), followed by the genitourinary tract. Skin lesions may develop before or after the diagnosis of the internal cancer. MTS is caused by changes (mutations) in the MLH1 or MSH2 genes and is inherited in an autosomal dominant manner. A mutation in either of these genes gives a person an increased lifetime risk of developing the skin changes and types of cancer associated with the condition. Last updated: 6/11/2015

MalaCards based summary : Muir-Torre Syndrome, also known as keratoacanthoma, is related to lynch syndrome i and keratoacanthoma, and has symptoms including colon cancer, breast carcinoma and adenoma sebaceum. An important gene associated with Muir-Torre Syndrome is MSH2 (MutS Homolog 2), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Endometrial cancer. The drugs Dabrafenib and Trametinib have been mentioned in the context of this disorder. Affiliated tissues include skin, colon and liver, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and neoplasm

UniProtKB/Swiss-Prot : 71 Muir-Torre syndrome: Rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy.

Wikipedia : 72 Muir–Torre syndrome (MTS) is a rare hereditary, autosomal dominant cancer syndrome that is thought to be... more...

Description from OMIM: 158320

Related Diseases for Muir-Torre Syndrome

Diseases related to Muir-Torre Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 105)
# Related Disease Score Top Affiliating Genes
1 lynch syndrome i 31.0 MLH1 MSH2 MSH6 PMS1 PMS2
2 keratoacanthoma 30.8 MLH1 MSH2
3 adenoma 30.8 MLH1 MSH2 MUTYH
4 sebaceous adenoma 30.4 MLH1 MSH2 MSH6 PMS2
5 attenuated familial adenomatous polyposis 30.2 MSH2 MSH6 MUTYH
6 colorectal adenocarcinoma 30.2 MLH1 MSH2 MSH6
7 colonic benign neoplasm 30.2 MLH1 MSH2 MUTYH
8 familial adenomatous polyposis 29.9 MLH1 MSH2 MSH6 MUTYH
9 lynch syndrome 29.2 MLH1 MSH2 MSH6 MUTYH PMS1 PMS2
10 sebaceous adenocarcinoma 29.1 MLH1 MSH2 MSH6 PMS1 PMS2
11 mismatch repair cancer syndrome 29.1 MLH1 MSH2 MSH6 PMS1 PMS2
12 ovarian cancer 29.1 MLH1 MSH2 MSH6 PMS2
13 colorectal cancer 28.0 FHIT IFNA2 MLH1 MSH2 MSH6 MUTYH
14 mohr-tranebjaerg syndrome 11.7
15 basal cell carcinoma 1 11.6
16 diabetes and deafness, maternally inherited 11.3
17 may-thurner syndrome 11.2
18 chondrodysplasia punctata, tibia-metacarpal type 10.9
19 alzheimer disease mitochondrial 10.9
20 myoglobinuria, recurrent 10.9
21 acrocallosal syndrome 10.8
22 cardiomyopathy, infantile histiocytoid 10.8
23 myoclonic epilepsy associated with ragged-red fibers 10.8
24 joubert syndrome 2 10.8
25 joubert syndrome 6 10.8
26 joubert syndrome 14 10.8
27 joubert syndrome 32 10.8
28 adenocarcinoma 10.5
29 lower lip cancer 10.3 MLH1 MSH2
30 anal fistula 10.3 MLH1 MSH2
31 atypical polypoid adenomyoma 10.3 MLH1 MSH2
32 polyposis syndrome, hereditary mixed, 1 10.3 MLH1 MUTYH
33 glioma susceptibility 1 10.3
34 glioblastoma multiforme 10.3
35 glioblastoma 10.3
36 melanocytic nevus syndrome, congenital 10.3 MLH1 MSH2
37 gastric leiomyoma 10.3 MLH1 MSH6
38 legius syndrome 10.2 MSH2 MSH6
39 childhood kidney cell carcinoma 10.2 MLH1 MSH2
40 acanthoma 10.2
41 transitional cell carcinoma 10.2
42 gastrointestinal system benign neoplasm 10.2 MLH1 MUTYH
43 small intestine cancer 10.1 MLH1 MSH2 MSH6
44 skin benign neoplasm 10.1 MLH1 MSH2 MSH6
45 familial colorectal cancer 10.1 MLH1 MSH2 MUTYH
46 intestinal benign neoplasm 10.1 MLH1 MSH2 MUTYH
47 colorectal adenoma 10.1 MLH1 MSH2 MUTYH
48 reproductive organ cancer 10.1 MLH1 MSH2 MSH6
49 rectal neoplasm 10.1 MLH1 MSH2 MUTYH
50 cecal benign neoplasm 10.0 MUTYH PMS1

Graphical network of the top 20 diseases related to Muir-Torre Syndrome:



Diseases related to Muir-Torre Syndrome

Symptoms & Phenotypes for Muir-Torre Syndrome

Symptoms via clinical synopsis from OMIM:

53
Neoplasia:
colon cancer
laryngeal carcinoma
basal cell carcinoma
benign gastrointestinal tract tumors
breast cancer
more
Skin Nails Hair Skin:
sebaceous gland tumors
keratoacanthomas

Abdomen Gastroin testinal:
colonic diverticula (early onset)


Clinical features from OMIM:

158320

Human phenotypes related to Muir-Torre Syndrome:

55 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 colon cancer 55 31 frequent (33%) Frequent (79-30%) HP:0003003
2 breast carcinoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0003002
3 adenoma sebaceum 55 31 hallmark (90%) Very frequent (99-80%) HP:0009720
4 endometrial carcinoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0012114
5 neoplasm of the liver 55 31 occasional (7.5%) Occasional (29-5%) HP:0002896
6 hematological neoplasm 55 31 occasional (7.5%) Occasional (29-5%) HP:0004377
7 neoplasm of the stomach 55 31 frequent (33%) Frequent (79-30%) HP:0006753
8 malignant genitourinary tract tumor 55 31 occasional (7.5%) Occasional (29-5%) HP:0006758
9 renal neoplasm 55 31 occasional (7.5%) Occasional (29-5%) HP:0009726
10 laryngeal carcinoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0012118
11 salivary gland neoplasm 55 31 occasional (7.5%) Occasional (29-5%) HP:0100684
12 neoplasm of the skin 55 Very frequent (99-80%)
13 colonic diverticula 31 HP:0002253
14 basal cell carcinoma 31 HP:0002671
15 benign gastrointestinal tract tumors 31 HP:0006719
16 duodenal adenocarcinoma 31 HP:0006771
17 benign genitourinary tract neoplasm 31 HP:0006778
18 sebaceous gland carcinoma 31 HP:0030410

UMLS symptoms related to Muir-Torre Syndrome:


pruritus, exanthema

GenomeRNAi Phenotypes related to Muir-Torre Syndrome according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.1 MLH1 MSH2 MSH6 MUTYH PMS1 PMS2

MGI Mouse Phenotypes related to Muir-Torre Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.17 FHIT MLH1 MSH2 MSH6 MUTYH PMS1

Drugs & Therapeutics for Muir-Torre Syndrome

Drugs for Muir-Torre Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dabrafenib Approved, Investigational Phase 2 44462760 44516822
2
Trametinib Approved Phase 2 871700-17-3 11707110
3
nivolumab Approved Phase 2 946414-94-4
4 Protein Kinase Inhibitors Phase 2
5 Antibodies Phase 2
6 Antibodies, Monoclonal Phase 2
7 Immunoglobulins Phase 2
8
Sorafenib Approved, Investigational 284461-73-0 216239 406563
9
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
10
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
11
Nicotinamide Approved, Investigational, Nutraceutical 98-92-0 936
12 Micronutrients
13 Nicotinic Acids
14 Trace Elements
15 Vitamin B Complex
16 Vitamins
17 Folate Nutraceutical
18 Vitamin B3 Nutraceutical
19 Vitamin B9 Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase II Biomarker Study Comparing the Combination of BRAF Inhibitor Dabrafenib With MEK Inhibitor Trametinib Versus the Combination After Monotherapy With Dabrafenib or Trametinib Completed NCT02314143 Phase 2 Dabrafenib;Trametinib
2 Talimogene Laherparepvec and Nivolumab in Treating Patients With Refractory Lymphomas or Advanced or Refractory Non-melanoma Skin Cancers Recruiting NCT02978625 Phase 2
3 A Pilot Study of Trientine With Vemurafenib for the Treatment BRAF Mutated Metastatic Melanoma Withdrawn NCT02068079 Phase 1 Vemurafenib and Trientine
4 Tolerance of Targeted Therapy Used in Metastatic Melanoma in Patients Aged Over 65 and 75-year-old Recruiting NCT03155217
5 Prospective, Non-interventional, Post-authorization Safety Study That Includes All Patients Diagnosed as Unresectable Differentiated Thyroid Carcinoma and Treated With Sorafenib Recruiting NCT02185560 Sorafenib (Nexavar, BAY43-9006)

Search NIH Clinical Center for Muir-Torre Syndrome

Cochrane evidence based reviews: muir-torre syndrome

Genetic Tests for Muir-Torre Syndrome

Genetic tests related to Muir-Torre Syndrome:

# Genetic test Affiliating Genes
1 Muir-Torré Syndrome 28 MLH1 MSH2

Anatomical Context for Muir-Torre Syndrome

MalaCards organs/tissues related to Muir-Torre Syndrome:

38
Skin, Colon, Liver, Eye, Thyroid, Salivary Gland, Testes

Publications for Muir-Torre Syndrome

Articles related to Muir-Torre Syndrome:

(show top 50) (show all 202)
# Title Authors Year
1
Therapy-associated myelodysplastic syndrome with monosomy 7 arising in a Muir-Torre Syndrome patient carrying<i>SETBP1</i>mutation. ( 29435294 )
2018
2
A possible association between mycosis fungoides and Muir-Torre syndrome: Two disorders with microsatellite instability. ( 28761921 )
2017
3
Muir-Torre syndrome: multiple sebaceous neoplasms and visceral malignancy manifesting after cardiac transplantation and iatrogenic immunosuppression. ( 27868185 )
2017
4
Review of the current medical literature and assessment of current utilization patterns regarding mismatch repair protein immunohistochemistry in cutaneous Muir-Torre syndrome-associated neoplasms. ( 28749576 )
2017
5
MSH6, Past and Present and Muir-Torre Syndrome-Connecting the Dots. ( 28323777 )
2017
6
Muir-Torre syndrome caused by exonic deletion of MLH1 due to homologous recombination. ( 28120777 )
2017
7
Lynch Syndrome and Muir-Torre Syndrome: An update and review on the genetics, epidemiology, and management of two related disorders. ( 29447627 )
2017
8
Usefulness of PET/CT for early detection of internal malignancies in patients with Muir-Torre syndrome: report of two cases. ( 28537014 )
2017
9
Analysis of Sebaceous Neoplasms for DNA Mismatch Repair Proteins in Muir-Torre Syndrome. ( 28859734 )
2017
10
A case report of Muir-Torre syndrome in a woman with breast cancer and MSI-Low skin squamous cell carcinoma. ( 28507641 )
2017
11
Importance of universal mismatch repair protein immunohistochemistry in patients with sebaceous neoplasia as an initial screening tool for Muir-Torre syndrome. ( 26826402 )
2016
12
Cutaneous Sebaceous Lesions in a Patient With MUTYH-Associated Polyposis Mimicking Muir-Torre Syndrome. ( 27870730 )
2016
13
Muir-Torre syndrome (MTS): An update and approach to diagnosis and management. ( 26892655 )
2016
14
Muir-Torre Syndrome Presenting as Sebaceous Adenocarcinoma and Invasive MSH6-Positive Colorectal Adenocarcinoma. ( 26933426 )
2016
15
Muir-Torre Syndrome: A Case Associated with an Infrequent Gene Mutation. ( 26962393 )
2016
16
Urothelial Carcinoma Recurrence in an Ileal Neobladder Nine Years after Primary Surgery with Muir-Torre Syndrome. ( 27123355 )
2016
17
Universal immunohistochemical screening of sebaceous neoplasms for Muir-Torre syndrome: Putting the cart before the horse? ( 27745640 )
2016
18
Aggressive Extraocular Sebaceous Carcinoma of the Scalp Involving the Brain in a Patient With Muir-Torre Syndrome. ( 26779764 )
2016
19
Role of microsatellite instability, immunohistochemistry and mismatch repair germline aberrations in immunosuppressed transplant patients: a phenocopy dilemma in Muir-Torre syndrome. ( 27016151 )
2016
20
Generational Expression of Muir-Torre Syndrome in a Canadian Family. ( 27822395 )
2016
21
Sebaceous adenomas in the absence of Muir-Torre syndrome. ( 27769341 )
2016
22
Neuromalignancy complicating the Muir-Torre syndrome. ( 26076933 )
2015
23
Adenocarcinoma of the cervix associated with a neuroendocrine small cell carcinoma of the cervix in the spectrum of Muir-Torre syndrome. ( 26050364 )
2015
24
Somatic MMR Gene Mutations as a Cause for MSI-H Sebaceous Neoplasms in Muir-Torre Syndrome-Like Patients. ( 25504677 )
2015
25
Diagnostic error: what Muir-Torre syndrome has taught us. ( 25795746 )
2015
26
Sebaceous adenomas of the eyelid and Muir-Torre Syndrome. ( 25595178 )
2015
27
Muir-Torre Syndrome Masquerading as Chalazion. ( 26352527 )
2015
28
Muir-Torre syndrome. ( 26527831 )
2015
29
FDG-PET-positive lower-extremity sebaceous-gland carcinoma in a patient with Muir-Torre syndrome. ( 27398125 )
2015
30
The role of immunohistochemistry in the Muir-Torre Syndrome. ( 26312706 )
2015
31
Parotid Sebaceous Carcinoma in Patient with Muir Torre Syndrome, Caused by MSH2 Mutation. ( 26577210 )
2015
32
Cystic sebaceous tumour with no evidence of Muir-Torre syndrome. ( 25753622 )
2015
33
Muir-Torre Syndrome and Central Nervous System Malignancy: Highlighting an Uncommon Association. ( 26035046 )
2015
34
Muir-Torre Syndrome and founder mismatch repair gene mutations: A long gone historical genetic challenge. ( 26143115 )
2015
35
Glioblastoma multiforme as initial internal malignancy in Muir-Torre syndrome (MTS). ( 27051787 )
2015
36
The Muir-Torre syndrome: a typical case of misdiagnosis and consequent worsened prognosis. ( 25213586 )
2014
37
Fordyce granules and hyperplastic mucosal sebaceous glands as distinctive stigmata in Muir-Torre syndrome patients: characterization with reflectance confocal microscopy. ( 25213213 )
2014
38
Sebaceous hyperplasia of the vulva: a series of cases reporting no association with the Muir-Torre syndrome. ( 24901406 )
2014
39
Muir-Torre syndrome: case report and molecular characterization. ( 24474082 )
2014
40
Sebaceous carcinoma of the eyelid and Muir-Torre syndrome. ( 24969841 )
2014
41
Muir-Torre syndrome. ( 25427047 )
2014
42
Muir-Torre syndrome. ( 25035371 )
2014
43
Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome. ( 25197397 )
2014
44
Skin lesions with Lynch syndrome could represent Muir-Torre syndrome. ( 24793211 )
2014
45
Muir-Torre syndrome or phenocopy? The value of the immunohistochemical expression of mismatch repair proteins in sebaceous tumors of immunocompromised patients. ( 24969397 )
2014
46
Reticulated acanthoma with sebaceous differentiation: another sebaceous neoplasm associated with Muir-Torre syndrome? ( 23651324 )
2013
47
Muir-Torre syndrome-associated pleomorphic liposarcoma arising in a previous radiation field. ( 23299928 )
2013
48
Limitations of dermatopathology: Muir-Torre syndrome as an example. ( 23617078 )
2013
49
A case of Muir-Torre syndrome with multiple cancers of bilateral eyelids and breast. ( 23730114 )
2013
50
Muir-Torre Syndrome in a Middle-Aged Chinese Patient with Sebaceous Carcinoma of the Eyelid. ( 24117411 )
2013

Variations for Muir-Torre Syndrome

ClinVar genetic disease variations for Muir-Torre Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MLH1 MLH1, 370-BP DEL deletion Pathogenic
2 MLH1 NM_000249.3(MLH1): c.1943C> T (p.Pro648Leu) single nucleotide variant Pathogenic rs63750610 GRCh37 Chromosome 3, 37090054: 37090054
3 MSH2 NM_000251.2(MSH2): c.1801C> T (p.Gln601Ter) single nucleotide variant Pathogenic rs63750047 GRCh37 Chromosome 2, 47702205: 47702205
4 MSH2 NM_000251.2(MSH2): c.269_290dup22 (p.Tyr98Argfs) duplication Pathogenic rs587776529 GRCh37 Chromosome 2, 47635597: 47635618
5 MSH2 MSH2, 32-KB DEL, EX1-6 deletion Pathogenic

Expression for Muir-Torre Syndrome

Search GEO for disease gene expression data for Muir-Torre Syndrome.

Pathways for Muir-Torre Syndrome

Pathways related to Muir-Torre Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 MLH1 MSH2 MSH6 MUTYH PMS2
2
Show member pathways
12.69 FHIT MLH1 MSH2 MSH6
3 12.46 IFNA2 MLH1 MSH2 MSH6
4 12.03 MLH1 MSH2 MSH6 MUTYH
5 11.8 MLH1 MSH2 MSH6
6 11.62 MLH1 MSH2 PMS2
7 11.2 MLH1 MSH2 MSH6
8 11.16 MSH2 MSH6
9
Show member pathways
11.12 MLH1 MSH2
10
Show member pathways
11.06 MLH1 MSH2
11
Show member pathways
11.01 MLH1 MSH2 MSH6 PMS1 PMS2
12 10.72 MLH1 MSH2 MSH6 PMS2

GO Terms for Muir-Torre Syndrome

Cellular components related to Muir-Torre Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mismatch repair complex GO:0032300 9.16 MLH1 MSH2
2 MutSalpha complex GO:0032301 8.96 MSH2 MSH6
3 MutLalpha complex GO:0032389 8.8 MLH1 PMS1 PMS2

Biological processes related to Muir-Torre Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.8 MLH1 MSH2 MSH6 MUTYH PMS1 PMS2
2 DNA repair GO:0006281 9.73 MLH1 MSH2 MSH6 MUTYH PMS1 PMS2
3 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.61 MLH1 MSH2 MSH6
4 determination of adult lifespan GO:0008340 9.54 MSH2 MSH6
5 isotype switching GO:0045190 9.54 MLH1 MSH2 MSH6
6 positive regulation of isotype switching to IgG isotypes GO:0048304 9.52 MLH1 MSH2
7 positive regulation of helicase activity GO:0051096 9.51 MSH2 MSH6
8 negative regulation of DNA recombination GO:0045910 9.49 MSH2 MSH6
9 maintenance of DNA repeat elements GO:0043570 9.48 MSH2 MSH6
10 positive regulation of isotype switching to IgA isotypes GO:0048298 9.46 MLH1 MSH2
11 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.4 MLH1 MSH2
12 somatic recombination of immunoglobulin gene segments GO:0016447 9.33 MLH1 MSH2 MSH6
13 somatic hypermutation of immunoglobulin genes GO:0016446 9.26 MLH1 MSH2 MSH6 PMS2
14 mismatch repair GO:0006298 9.1 MLH1 MSH2 MSH6 MUTYH PMS1 PMS2

Molecular functions related to Muir-Torre Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.92 MLH1 MSH2 MSH6 PMS1 PMS2
2 ATPase activity GO:0016887 9.72 MLH1 MSH2 MSH6 PMS1 PMS2
3 single-stranded DNA binding GO:0003697 9.67 MLH1 MSH2 PMS1 PMS2
4 DNA-dependent ATPase activity GO:0008094 9.51 MSH2 MSH6
5 ADP binding GO:0043531 9.49 MSH2 MSH6
6 four-way junction DNA binding GO:0000400 9.48 MSH2 MSH6
7 oxidized purine DNA binding GO:0032357 9.46 MSH2 MSH6
8 single guanine insertion binding GO:0032142 9.43 MSH2 MSH6
9 MutLalpha complex binding GO:0032405 9.43 MSH2 MSH6 MUTYH
10 single thymine insertion binding GO:0032143 9.4 MSH2 MSH6
11 MutSalpha complex binding GO:0032407 9.33 MLH1 MUTYH PMS2
12 guanine/thymine mispair binding GO:0032137 9.13 MLH1 MSH2 MSH6
13 mismatched DNA binding GO:0030983 9.02 MLH1 MSH2 MSH6 PMS1 PMS2

Sources for Muir-Torre Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....