CMM8
MCID: MLN043
MIFTS: 37

Melanoma, Cutaneous Malignant 8 (CMM8)

Categories: Cancer diseases, Genetic diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Melanoma, Cutaneous Malignant 8

MalaCards integrated aliases for Melanoma, Cutaneous Malignant 8:

Name: Melanoma, Cutaneous Malignant 8 57 72
Cutaneous Malignant Melanoma 8 72 29 6
Melanoma, Cutaneous Malignant, Susceptibility to, 8 57 13
Cmm8 57 72
Mitf-Related Melanoma and Renal Cell Carcinoma Predisposition Syndrome 58
Melanoma, Cutaneous, Malignant, Susceptibility to, Type 8 39
Melanoma and Renal Cell Carcinoma, Susceptibility to 57
Susceptibility to Melanoma and Renal Cell Carcinoma 72
Melanoma and Renal Cell Carcinoma 57

Characteristics:

Orphanet epidemiological data:

58

HPO:

31
melanoma, cutaneous malignant 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 614456
OMIM Phenotypic Series 57 PS155600
MeSH 44 D008545
Orphanet 58 ORPHA293822
MedGen 41 C3152204
SNOMED-CT via HPO 68 2092003 263681008 372244006

Summaries for Melanoma, Cutaneous Malignant 8

OMIM® : 57 Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). For a discussion of genetic heterogeneity of cutaneous malignant melanoma, see CMM1 (155600). (614456) (Updated 05-Apr-2021)

MalaCards based summary : Melanoma, Cutaneous Malignant 8, also known as cutaneous malignant melanoma 8, is related to nodular malignant melanoma and skin/hair/eye pigmentation, variation in, 3. An important gene associated with Melanoma, Cutaneous Malignant 8 is MITF (Melanocyte Inducing Transcription Factor), and among its related pathways/superpathways is Aldosterone synthesis and secretion. The drugs tannic acid and Peginterferon alfa-2a have been mentioned in the context of this disorder. Affiliated tissues include eye and skin, and related phenotypes are cutaneous melanoma and pigmentation

UniProtKB/Swiss-Prot : 72 Melanoma, cutaneous malignant 8: A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but also may involve other sites.

Related Diseases for Melanoma, Cutaneous Malignant 8

Diseases in the Melanoma, Cutaneous Malignant 1 family:

Melanoma, Cutaneous Malignant 2 Melanoma, Cutaneous Malignant 4
Melanoma, Cutaneous Malignant 3 Melanoma, Cutaneous Malignant 7
Melanoma, Cutaneous Malignant 5 Melanoma, Cutaneous Malignant 6
Melanoma, Cutaneous Malignant 8 Melanoma, Cutaneous Malignant 9
Melanoma, Cutaneous Malignant 10

Diseases related to Melanoma, Cutaneous Malignant 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 nodular malignant melanoma 29.8 TYR MITF
2 skin/hair/eye pigmentation, variation in, 3 11.3
3 renal cell carcinoma, nonpapillary 10.9
4 melanoma 10.8
5 small cell cancer of the lung 10.2
6 lung cancer 10.2
7 leukemia, acute myeloid 10.0
8 microcephaly, epilepsy, and diabetes syndrome 10.0
9 graft-versus-host disease 10.0
10 exanthem 10.0
11 bone disease 10.0
12 neutropenia 10.0
13 thrombocytopenia 10.0
14 ocular melanoma 10.0
15 kidney cancer 10.0
16 benign mesothelioma 10.0
17 myeloid leukemia 10.0
18 hypereosinophilic syndrome 10.0
19 renal cell carcinoma 4 10.0
20 epithelioid cell melanoma 9.9 TYR MITF
21 ochronosis 9.9 TYR MITF
22 ocular albinism 9.9 TYR MITF
23 ocular albinism with congenital sensorineural deafness 9.8 TYR MITF
24 albinism 9.8 TYR MITF
25 albinism, ocular, with late-onset sensorineural deafness 9.8 TYR MITF
26 malignant spindle cell melanoma 9.8 TYR MITF
27 dowling-degos disease 1 9.8 TYR MITF
28 waardenburg syndrome, type 4b 9.8 TYR MITF
29 waardenburg syndrome, type 3 9.8 TYR MITF
30 tietz albinism-deafness syndrome 9.8 TYR MITF
31 waardenburg syndrome, type 2e 9.8 TYR MITF
32 waardenburg syndrome, type 2a 9.8 TYR MITF
33 waardenburg syndrome, type 1 9.8 TYR MITF
34 pigmentation disease 9.8 TYR MITF
35 waardenburg syndrome, type 4a 9.8 TYR MITF
36 melanoma in congenital melanocytic nevus 9.8 TYR MITF
37 autoimmune disease of skin and connective tissue 9.8 TYR MITF
38 piebald trait 9.8 TYR MITF
39 angiomyolipoma 9.8 TYR MITF
40 clear cell sarcoma 9.8 TYR MITF
41 actinic keratosis 9.8 TYR MITF
42 neurilemmoma 9.8 TYR MITF
43 neurofibroma 9.8 TYR MITF
44 vitiligo-associated multiple autoimmune disease susceptibility 1 9.8 TYR MITF
45 waardenburg's syndrome 9.7 TYR MITF
46 oculocutaneous albinism 9.7 TYR MITF
47 melanoma, cutaneous malignant 1 9.7 TYR MITF
48 melanoma, uveal 9.7 TYR MITF
49 skin melanoma 9.7 TYR MITF
50 microphthalmia 9.6 TYR MITF

Graphical network of the top 20 diseases related to Melanoma, Cutaneous Malignant 8:



Diseases related to Melanoma, Cutaneous Malignant 8

Symptoms & Phenotypes for Melanoma, Cutaneous Malignant 8

Human phenotypes related to Melanoma, Cutaneous Malignant 8:

31
# Description HPO Frequency HPO Source Accession
1 cutaneous melanoma 31 HP:0012056

Clinical features from OMIM®:

614456 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Melanoma, Cutaneous Malignant 8:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 MITF TYR

Drugs & Therapeutics for Melanoma, Cutaneous Malignant 8

Drugs for Melanoma, Cutaneous Malignant 8 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 2, Phase 3 1401-55-4
2
Peginterferon alfa-2a Approved, Investigational Phase 2, Phase 3 198153-51-4 5360545
3
Benzocaine Approved, Investigational Phase 2, Phase 3 1994-09-7, 94-09-7 2337
4 Immunologic Factors Phase 2, Phase 3
5 Antiviral Agents Phase 2, Phase 3
6 interferons Phase 2, Phase 3
7 Interferon alpha-2 Phase 2, Phase 3
8 Interferon-alpha Phase 2, Phase 3
9 Anti-Infective Agents Phase 2, Phase 3
10
nivolumab Approved Phase 2 946414-94-4
11
Amifostine Approved, Investigational Phase 1 20537-88-6 2141
12
Azacitidine Approved, Investigational Phase 1 320-67-2 9444
13
Ipilimumab Approved Phase 1 477202-00-9
14 Protective Agents Phase 1
15 Radiation-Protective Agents Phase 1
16 Antimetabolites Phase 1
17
Aldesleukin Approved Early Phase 1 85898-30-2, 110942-02-4
18
Genistein Investigational Early Phase 1 446-72-0 5280961
19 Anti-Retroviral Agents Early Phase 1
20 Hormones Early Phase 1
21 Hormone Antagonists Early Phase 1
22 Anti-HIV Agents Early Phase 1
23 Estrogens Early Phase 1
24 Phytoestrogens Early Phase 1
25 Protein Kinase Inhibitors Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Extension Protocol for Patients With Chronic Myelogenous Leukemia, Malignant Melanoma or Renal Cell Carcinoma That Have Responded to Treatment With Pegylated-Interferon α-2a or Roferon-A® in Prior Clinical Studies Completed NCT02829775 Phase 2, Phase 3 Pegylated Interferon Alfa-2a;Recombinant Interferon Alfa 2a
2 High Dose IL-2 in Combination With Anti-PD-1 to Overcome Anti-PD-1 Resistance in Metastatic Melanoma and Renal Cell Carcinoma Recruiting NCT03991130 Phase 2 IL-2 and Nivolumab
3 Radiotherapy as an Immunological Booster in Patients With Metastatic Melanoma or Renal Cell Carcinoma Treated With High-dose Interleukin-2: Evaluation of Biomarkers of Immunologic and Therapeutic Response Recruiting NCT01884961 Phase 2
4 Phase I/II Open Label Dose Escalation and Double-Blind, Placebo-Controlled Evaluation of M40403, for the Prevention of the Dose Limiting Toxicities of High Dose IV Bolus IL-2 Treatment of Metastatic Melanoma or Renal Cell Carcinoma. Suspended NCT00033956 Phase 1, Phase 2 M40403
5 Phase II Study of Irradiated Donor Lymphocyte Infusion Plus High-dose Interleukin-2 in Patients With Metastatic Malignant Melanoma and Renal Cell Carcinoma Terminated NCT01925118 Phase 2
6 Low-dose Interleukin-2 and Pembrolizumab Among Patients With Metastatic Melanoma and Renal Cell Carcinoma Withdrawn NCT03111901 Phase 1, Phase 2 Pembrolizumab;Interleukin-2
7 A Phase 1 Study of 5-azacitidine in Combination With Interferon-Alfa 2B in Unresectable or Metastatic Melanoma and Renal Cell Carcinoma Completed NCT00217542 Phase 1 amifostine/azacitidine
8 A Phase I Study of APX005M in Combination With Nivolumab and Ipilimumab in Treatment Naïve Patients With Advanced Melanoma or Renal Cell Carcinoma Recruiting NCT04495257 Phase 1 Nivolumab;Ipilimumab;APX005M
9 A Phase I Study of Subcutaneous "CYT 107" (Interleukin-7) in Refractory Metastatic Melanoma or Renal Cell Carcinoma Terminated NCT00492440 Phase 1
10 A Pilot Study of the Effect of Genistein in Combination With High-Dose Interleukin-2 on Cell Expansion and Gene Expression in Patients With Metastatic Melanoma or Renal Cell Carcinoma Completed NCT00276835 Early Phase 1

Search NIH Clinical Center for Melanoma, Cutaneous Malignant 8

Genetic Tests for Melanoma, Cutaneous Malignant 8

Genetic tests related to Melanoma, Cutaneous Malignant 8:

# Genetic test Affiliating Genes
1 Cutaneous Malignant Melanoma 8 29 MITF

Anatomical Context for Melanoma, Cutaneous Malignant 8

MalaCards organs/tissues related to Melanoma, Cutaneous Malignant 8:

40
Eye, Skin

Publications for Melanoma, Cutaneous Malignant 8

Articles related to Melanoma, Cutaneous Malignant 8:

(show all 27)
# Title Authors PMID Year
1
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. 57 6
22080950 2011
2
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. 57 6
22012259 2011
3
Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families. 6
30414346 2019
4
Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma. 6
28125078 2017
5
Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF. 6
27473757 2016
6
Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations. 6
26650189 2016
7
Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. 6
25803691 2015
8
MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors. 6
24406078 2014
9
Prevalence of the E318K and V320I MITF germline mutations in Polish cancer patients and multiorgan cancer risk-a population-based study. 6
24767713 2014
10
MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function. 6
23787126 2013
11
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. 6
23504663 2013
12
Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history. 6
23167872 2013
13
Review and update of mutations causing Waardenburg syndrome. 6
20127975 2010
14
Oculocutaneous albinism spectrum. 6
19533789 2009
15
The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. 6
19208379 2009
16
A new hypothesis of OCA1B. 6
18925668 2008
17
Two newly identified genetic determinants of pigmentation in Europeans. 6
18488028 2008
18
ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. 6
18488027 2008
19
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. 6
18326704 2008
20
Genetic determinants of hair, eye and skin pigmentation in Europeans. 6
17952075 2007
21
A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature. 6
10766867 2000
22
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). 6
9158138 1997
23
Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A. 6
8659547 1996
24
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. 6
7704033 1995
25
Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism. 6
666627 1978
26
Cloning of the human genomic amiloride-sensitive Na+/H+ antiporter gene, identification of genetic polymorphisms, and localization on the genetic map of chromosome 1p. 61
1970796 1990
27
Unequal crossingover between homologous chromosomes is not the major mechanism involved in the generation of new alleles at VNTR loci. 61
2571584 1989

Variations for Melanoma, Cutaneous Malignant 8

ClinVar genetic disease variations for Melanoma, Cutaneous Malignant 8:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MITF NM_001354604.2(MITF):c.709dup (p.Tyr237fs) Duplication Pathogenic 864796 GRCh37: 3:69990427-69990428
GRCh38: 3:69941276-69941277
2 MITF NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) SNV Pathogenic 29792 rs149617956 GRCh37: 3:70014091-70014091
GRCh38: 3:69964940-69964940
3 MITF NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) SNV Pathogenic/Likely pathogenic 29792 rs149617956 GRCh37: 3:70014091-70014091
GRCh38: 3:69964940-69964940
4 MITF NM_001354604.2(MITF):c.956-2A>G SNV Likely pathogenic 849660 GRCh37: 3:70005604-70005604
GRCh38: 3:69956453-69956453
5 TYR NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) SNV risk factor 3779 rs1126809 GRCh37: 11:89017961-89017961
GRCh38: 11:89284793-89284793
6 MITF NM_001354604.2(MITF):c.987C>A (p.Asp329Glu) SNV Uncertain significance 651681 rs1291439207 GRCh37: 3:70005637-70005637
GRCh38: 3:69956486-69956486
7 MITF NM_001354604.2(MITF):c.623A>G (p.Glu208Gly) SNV Likely benign 227546 rs200108255 GRCh37: 3:69988289-69988289
GRCh38: 3:69939138-69939138
8 MITF NM_001354604.2(MITF):c.366C>T (p.His122=) SNV Benign 226728 rs140663277 GRCh37: 3:69986984-69986984
GRCh38: 3:69937833-69937833
9 MITF NM_001354604.2(MITF):c.880+9C>G SNV Benign 226729 rs181810413 GRCh37: 3:69998328-69998328
GRCh38: 3:69949177-69949177

UniProtKB/Swiss-Prot genetic disease variations for Melanoma, Cutaneous Malignant 8:

72
# Symbol AA change Variation ID SNP ID
1 MITF p.Glu425Lys VAR_067367 rs149617956

Cosmic variations for Melanoma, Cutaneous Malignant 8:

9 (show all 46)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM97107326 NRAS skin,ear,malignant melanoma,NS c.181C>A p.Q61K 1:114713909-114713909 6
2 COSM93665204 NF1 skin,ear,malignant melanoma,NS c.3652C>T p.Q1218* 17:31233157-31233157 6
3 COSM93539965 NF1 skin,ear,malignant melanoma,NS c.3097C>T p.Q1033* 17:31230366-31230366 6
4 COSM93692305 NF1 skin,ear,malignant melanoma,NS c.3097C>T p.Q1033* 17:31230366-31230366 6
5 COSM93519256 NF1 skin,ear,malignant melanoma,NS c.3652C>T p.Q1218* 17:31233157-31233157 6
6 COSM88321369 KIT skin,eye,malignant melanoma,NS c.1459G>A p.G487S 4:54725969-54725969 6
7 COSM99100400 GRIN2A skin,ear,malignant melanoma,NS c.3217G>A p.E1073K 16:9764327-9764327 6
8 COSM99100596 GRIN2A skin,ear,malignant melanoma,NS c.1959G>A p.M653I 16:9829471-9829471 6
9 COSM89609735 GRIN2A skin,ear,malignant melanoma,NS c.1959G>A p.M653I 16:9829471-9829471 6
10 COSM135206415 GRIN2A skin,ear,malignant melanoma,NS c.3217G>A p.E1073K 16:9764327-9764327 6
11 COSM135217389 GRIN2A skin,ear,malignant melanoma,NS c.3773-19C>T p.? 16:9763447-9763447 6
12 COSM131440106 GRIN2A skin,ear,malignant melanoma,NS c.1548G>A p.M516I 16:9829471-9829471 6
13 COSM89609531 GRIN2A skin,ear,malignant melanoma,NS c.3217G>A p.E1073K 16:9764327-9764327 6
14 COSM135206628 GRIN2A skin,ear,malignant melanoma,NS c.1959G>A p.M653I 16:9829471-9829471 6
15 COSM89621238 GRIN2A skin,ear,malignant melanoma,NS c.4097C>T p.P1366L 16:9763447-9763447 6
16 COSM99112008 GRIN2A skin,ear,malignant melanoma,NS c.4097C>T p.P1366L 16:9763447-9763447 6
17 COSM131447592 GRIN2A skin,ear,malignant melanoma,NS c.3362-19C>T p.? 16:9763447-9763447 6
18 COSM131440017 GRIN2A skin,ear,malignant melanoma,NS c.2806G>A p.E936K 16:9764327-9764327 6
19 COSM97223158 CNR1 skin,ear,malignant melanoma,NS c.103+42C>T p.? 6:88145130-88145130 6
20 COSM152018575 CNR1 skin,ear,malignant melanoma,NS c.145C>T p.P49S 6:88145130-88145130 6
21 COSM108059286 CNR1 skin,ear,malignant melanoma,NS c.145C>T p.P49S 6:88145130-88145130 6
22 COSM117327995 CNR1 skin,ear,malignant melanoma,NS c.63-17C>T p.? 6:88145130-88145130 6
23 COSM96983478 CNR1 skin,ear,malignant melanoma,NS c.145C>T p.P49S 6:88145130-88145130 6
24 COSM96990932 CNR1 skin,ear,malignant melanoma,NS c.145C>T p.P49S 6:88145130-88145130 6
25 COSM87493313 CHRM3 skin,ear,malignant melanoma,NS c.1741T>A p.F581I 1:239909192-239909192 6
26 COSM144455643 CHRM3 skin,ear,malignant melanoma,NS c.1741T>A p.F581I 1:239909192-239909192 6
27 COSM149414554 BRAF skin,ear,malignant melanoma,NS c.1910T>G p.L637R 7:140753345-140753345 6
28 COSM150563774 BRAF skin,ear,malignant melanoma,NS c.1799T>A p.V600E 7:140753336-140753336 6
29 COSM150564452 BRAF skin,ear,malignant melanoma,NS c.1801A>G p.K601E 7:140753334-140753334 6
30 COSM88812698 BRAF skin,ear,malignant melanoma,NS c.1910T>A p.L637Q 7:140753345-140753345 6
31 COSM118795694 BRAF skin,ear,malignant melanoma,NS c.1790T>A p.L597Q 7:140753345-140753345 6
32 COSM88803061 BRAF skin,ear,malignant melanoma,NS c.1919T>A p.V640E 7:140753336-140753336 6
33 COSM118813778 BRAF skin,ear,malignant melanoma,NS c.1790T>G p.L597R 7:140753345-140753345 6
34 COSM88806346 BRAF skin,ear,malignant melanoma,NS c.1900G>A p.D634N 7:140753355-140753355 6
35 COSM118790577 BRAF skin,ear,malignant melanoma,NS c.1780G>A p.D594N 7:140753355-140753355 6
36 COSM150570620 BRAF skin,ear,malignant melanoma,NS c.1790T>A p.L597Q 7:140753345-140753345 6
37 COSM150565869 BRAF skin,ear,malignant melanoma,NS c.1780G>A p.D594N 7:140753355-140753355 6
38 COSM118787231 BRAF skin,ear,malignant melanoma,NS c.1799T>A p.V600E 7:140753336-140753336 6
39 COSM150585368 BRAF skin,ear,malignant melanoma,NS c.1790T>G p.L597R 7:140753345-140753345 6
40 COSM149385292 BRAF skin,ear,malignant melanoma,NS c.1919T>A p.V640E 7:140753336-140753336 6
41 COSM149386940 BRAF skin,ear,malignant melanoma,NS c.1921A>G p.K641E 7:140753334-140753334 6
42 COSM149388933 BRAF skin,ear,malignant melanoma,NS c.1900G>A p.D634N 7:140753355-140753355 6
43 COSM88834639 BRAF skin,ear,malignant melanoma,NS c.1910T>G p.L637R 7:140753345-140753345 6
44 COSM118788384 BRAF skin,ear,malignant melanoma,NS c.1801A>G p.K601E 7:140753334-140753334 6
45 COSM149394818 BRAF skin,ear,malignant melanoma,NS c.1910T>A p.L637Q 7:140753345-140753345 6
46 COSM88804430 BRAF skin,ear,malignant melanoma,NS c.1921A>G p.K641E 7:140753334-140753334 6

Expression for Melanoma, Cutaneous Malignant 8

Search GEO for disease gene expression data for Melanoma, Cutaneous Malignant 8.

Pathways for Melanoma, Cutaneous Malignant 8

Pathways related to Melanoma, Cutaneous Malignant 8 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.39 TYR MITF

GO Terms for Melanoma, Cutaneous Malignant 8

Biological processes related to Melanoma, Cutaneous Malignant 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 pigmentation GO:0043473 8.62 TYR MITF

Sources for Melanoma, Cutaneous Malignant 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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