MCID: TTH002
MIFTS: 48

Tooth Agenesis malady

Genetic diseases, Oral diseases, Rare diseases categories

Aliases & Classifications for Tooth Agenesis

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Sources:
10Disease Ontology, 12DISEASES, 47Novoseek, 51Orphanet, 29ICD9CM, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Tooth Agenesis:

Name: Tooth Agenesis 10 12
Selective Tooth Agenesis 10 51
Oligodontia 10 51
 
Hypodontia 10 47
Tooth Agenesis, Selective 47
Familial Tooth Agenesis 10


Classifications:



Characteristics (Orphanet epidemiological data):

51
selective tooth agenesis:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

Disease Ontology10 DOID:0050591
ICD9CM29 520.0
Orphanet51 99798
ICD10 via Orphanet28 K00.0

Summaries for Tooth Agenesis

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Wikipedia:68 In dentistry, hypodontia is the condition at which the patient has missing teeth as a result of the... more...

MalaCards based summary: Tooth Agenesis, also known as selective tooth agenesis, is related to ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant and ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive, and has symptoms including taurodontia, abnormality of dental enamel and delayed eruption of teeth. An important gene associated with Tooth Agenesis is PAX9 (Paired Box 9), and among its related pathways are and Elastic fibre formation. Affiliated tissues include bone and heart, and related mouse phenotypes are hearing/vestibular/ear and normal.

Disease Ontology:10 A tooth disease characterized by failure to develop on or more missing teeth.

Related Diseases for Tooth Agenesis

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Diseases related to Tooth Agenesis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 291)
idRelated DiseaseScoreTop Affiliating Genes
1ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant30.6EDAR, EDARADD
2ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive30.5AXIN2, EDA, EDAR, EDARADD, MSX1, PAX9
3anodontia30.3COL1A2, MMP20
4ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant30.3EDAR, EDARADD
5ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive30.3EDAR, EDARADD
6syndactyly30.3EDA, EDAR, EDARADD
7branchiooculofacial syndrome30.2BMP4, DSP, IRF6, MSX1
8tooth agenesis, selective, 1, with or without orofacial cleft10.7
9tooth agenesis, selective, 410.5
10tooth agenesis, selective, 310.5
11tooth agenesis, selective, x-linked 110.5
12tooth agenesis, selective, 210.4
13dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis10.4
14cleft lip10.4
15ectodermal dysplasia 3, witkop type10.3
16tooth agenesis, selective, 510.3
17icos-related common variable immune deficiency10.3EDAR, EDARADD
18hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia10.3EDAR, EDARADD, WNT10A
19homocystinuria caused by cystathionine beta-synthase deficiency10.3EDAR, EDARADD
20leukodystrophy with oligodontia10.3
21anhidrosis10.3EDA, EDAR, EDARADD
22glaucoma, primary open angle, juvenile-onset, 210.3DLX2, MSX1, TGFB3
23schopf-schulz-passarge syndrome10.3
24microdontia hypodontia short stature10.3
25troyer syndrome10.3EDA, EDAR, EDARADD, WNT10A
26mature cataract10.3AXIN2, EDA, EDARADD, MSX1, PAX9
27ectodermal dysplasia10.3
28down syndrome10.3
29orofacial cleft10.3
30familial isolated arrhythmogenic ventricular dysplasia, left dominant form10.3DSP, TGFB3
31orofaciodigital syndrome10.3BMP4, IRF6, MSX1, TGFB3
32emery-dreifuss muscular dystrophy, dominant type10.3EDA, EDAR, EDARADD
33right temporal lobar atrophy10.2DSP, TGFB3
34adult syndrome10.2
35pol iii-related leukodystrophies10.2
36hypotrichosis10.2
37hypodontia, x-linked10.2
38epidermolysis bullosa simplex with anodontia/hypodontia10.2
39mitf-related melanoma and renal cell carcinoma predisposition syndrome10.2DSP, TGFB3
40cleft lip palate oligodontia syndactyly pili torti10.2
41syringomas natal teeth oligodontia10.2
42colorectal cancer10.2
43ectodermal dysplasia, ectrodactyly, and macular dystrophy10.2
44oligodontia-colorectal cancer syndrome10.2
45taurodontism10.2
46van der woude syndrome10.2
47leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism10.2
48amelogenesis imperfecta10.2
49congenital heart disease ptosis hypodontia craniostosis10.2
50myasthenic syndrome, congenital, 2a, slow-channel10.2BMP4, FGFR1, IRF6, MSX1, TGFA, TGFB3

Graphical network of the top 20 diseases related to Tooth Agenesis:



Diseases related to tooth agenesis

Symptoms for Tooth Agenesis

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Symptoms:

 51 (show all 8)
  • face/facial anomalies
  • hypoplastic mandibula/partial absence of the mandibula
  • tooth shape anomaly
  • complete/partial microdontia
  • anodontia/oligodontia/hypodontia
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • x-linked recessive inheritance

HPO human phenotypes related to Tooth Agenesis:

(show all 7)
id Description Frequency HPO Source Accession
1 taurodontia hallmark (90%) HP:0000679
2 abnormality of dental enamel hallmark (90%) HP:0000682
3 delayed eruption of teeth hallmark (90%) HP:0000684
4 dental malocclusion hallmark (90%) HP:0000689
5 reduced number of teeth hallmark (90%) HP:0009804
6 micrognathia hallmark (90%) HP:0000347
7 microdontia hallmark (90%) HP:0000691

Drugs & Therapeutics for Tooth Agenesis

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Linkage and Identification of (a) Candidate Gene(s) for Tooth DisordersRecruitingNCT00026026
2Hypodontia and Ovarian CancerRecruitingNCT01470235
3Clinical and Genetic Studies on HoloprosencephalyRecruitingNCT00088426
4Study of Selected X-Linked Disorders: Aicardi SyndromeRecruitingNCT00697411

Search NIH Clinical Center for Tooth Agenesis

Genetic Tests for Tooth Agenesis

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Anatomical Context for Tooth Agenesis

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MalaCards organs/tissues related to Tooth Agenesis:

33
Bone, Heart

Animal Models for Tooth Agenesis or affiliated genes

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MGI Mouse Phenotypes related to Tooth Agenesis:

38 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.9BMP4, DLX2, EDARADD, FGF3, FGFR1, IRF6
2MP:00028739.9AXIN2, BMP4, COL1A2, FGF3, FGFR1, PAX9
3MP:00053699.8BMP4, COL1A2, DLX2, FGFR1, MSX1, PAX9
4MP:00053809.7AXIN2, BMP4, DSP, FGF3, FGFR1, MSX1
5MP:00053889.7BMP4, DLX2, EDA, EDARADD, MSX1, PAX9
6MP:00053919.5AXIN2, BMP4, EDA, EDARADD, FGFR1, LTBP3
7MP:00053819.5BMP4, DLX2, EDA, EDAR, FGFR1, IRF6
8MP:00053859.5AXIN2, BMP4, COL1A2, DLX2, EDA, FGFR1
9MP:00107719.4BMP4, COL1A2, DSP, EDA, EDAR, EDARADD
10MP:00053849.3AXIN2, BMP4, CHDH, COL1A2, DLX2, DSP
11MP:00053799.3AXIN2, BMP4, EDA, EDAR, EDARADD, FGFR1
12MP:00053719.3AXIN2, BMP4, COL1A2, EDA, EDAR, EDARADD
13MP:00053869.2BMP4, COL1A2, DLX2, EDARADD, FGF3, FGFR1
14MP:00053909.2AXIN2, BMP4, COL1A2, DLX2, EDA, FGF3
15MP:00036319.1AXIN2, BMP4, DLX2, EDA, EDARADD, FGF3
16MP:00053899.1AXIN2, BMP4, CHDH, EDA, EDARADD, FGF3
17MP:00053829.0AXIN2, BMP4, DLX2, EDA, EDAR, EDARADD
18MP:00053788.9BMP4, COL1A2, DLX2, DSP, EDA, EDARADD
19MP:00107688.8AXIN2, BMP4, COL1A2, DLX2, DSP, EDA

Publications for Tooth Agenesis

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Articles related to Tooth Agenesis:

(show top 50)    (show all 124)
idTitleAuthorsYear
1
Prevalence of Tooth Agenesis in Adolescent Chinese Populations with or without Orthodontics. (25815384)
2015
2
Permanent Tooth Agenesis and Maxillary Hypoplasia in Patients with Unilateral Cleft Lip and Palate. (26505722)
2015
3
Prevalence and patterns of tooth agenesis among Malay children. (24968691)
2014
4
Association between rs11001553 of DKK1 and non-syndromic tooth agenesis in the Chinese Han population. (24737523)
2014
5
Whole genome sequencing reveals novel non-synonymous mutation in ectodysplasin A (EDA) associated with non-syndromic X-linked dominant congenital tooth agenesis. (25203534)
2014
6
Genetic epidemiology of tooth agenesis in Japan: a population- and family-based study. (25041097)
2014
7
WNT10A variants are associated with non-syndromic tooth agenesis in the general population. (24043634)
2014
8
A study of prevalence and distribution of tooth agenesis. (25713620)
2014
9
Colorectal cancer and self-reported tooth agenesis. (24607150)
2014
10
Characterization of novel MSX1 mutations identified in Japanese patients with nonsyndromic tooth agenesis. (25101640)
2014
11
MSX1 and PAX9 Investigation in Monozygotic Twins With Variable Expression of Tooth Agenesis. (24103583)
2013
12
The impact of tooth agenesis on oral health-related quality of life in children. (23794692)
2013
13
rs929387 of GLI3 is involved in tooth agenesis in Chinese Han population. (24278334)
2013
14
Tooth agenesis patterns and phenotype variation in a cohort of Belgian patients with hypodontia and oligodontia clustered in 79 families with their pedigrees. (23598609)
2013
15
Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis. (23167694)
2013
16
PAX9 Polymorphisms and susceptibility with sporadic tooth agenesis in Turkish populations: a case-control study. (24160254)
2013
17
Molecular factors resulting in tooth agenesis and contemporary approaches for regeneration: a review. (23235129)
2012
18
TGFB3 and BMP4 polymorphism are associated with isolated tooth agenesis. (22191848)
2012
19
Tooth agenesis: newer concept. (22900446)
2011
20
Msx1 mutations: how do they cause tooth agenesis? (21297014)
2011
21
Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis. (19623212)
2010
22
Patterns of tooth agenesis in patients with Down syndrome in relation to hypothyroidism and congenital heart disease: an aid for treatment planning. (20451772)
2010
23
From ectodermal dysplasia to selective tooth agenesis. (19504606)
2009
24
Defining subphenotypes for tooth agenesis: does side matter? (20297711)
2009
25
AXIN2 and CDH1 polymorphisms, tooth agenesis, and oral clefts. (18683894)
2009
26
Professional and patient-based evaluation of oral rehabilitation in patients with tooth agenesis. (19515060)
2009
27
Non-syndromic tooth agenesis in two Chinese families associated with novel missense mutations in the TNF domain of EDA (ectodysplasin A). (18545687)
2008
28
Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis. (18657636)
2008
29
Evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and isolate tooth agenesis, in a Turkish population. (18452891)
2008
30
PAX9 polymorphisms and susceptibility to sporadic tooth agenesis: a case-control study in southeast China. (18353002)
2008
31
Investigating the etiology of multiple tooth agenesis in three sisters with severe oligodontia. (18199077)
2008
32
Tooth agenesis in a family and homozygous PAX9 mutation in exon 3: a case report. (19641755)
2008
33
Can persistence of primary molars be predicted in subjects with multiple tooth agenesis? (18540013)
2008
34
Research advances in tooth agenesis]. (17304318)
2007
35
Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis. (17318851)
2007
36
A numeric code for identifying patterns of human tooth agenesis: a new approach. (16630299)
2006
37
Molecular characterization of a novel PAX9 missense mutation causing posterior tooth agenesis. (16479262)
2006
38
Maxillary canine anomalies and tooth agenesis. (16093260)
2005
39
Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans. (14607846)
2004
40
Oral clefts and syndromic forms of tooth agenesis as models for genetics of isolated tooth agenesis. (12598542)
2003
41
Tooth agenesis: a report of missing molars in two generations. (12924990)
2003
42
Molecular basis of non-syndromic tooth agenesis: mutations of MSX1 and PAX9 reflect their role in patterning human dentition. (12974677)
2003
43
The role of MSX1 in human tooth agenesis. (12097313)
2002
44
Is tooth agenesis related to brainstem anomalies in myelomeningocele patients with Chiari II malformations? (12512882)
2002
45
The genetics of human tooth agenesis: new discoveries for understanding dental anomalies. (10842107)
2000
46
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. (10742093)
2000
47
Haploinsufficiency of MSX1: a mechanism for selective tooth agenesis. (9742121)
1998
48
Can the location of tooth agenesis and the location of initial bone loss seen in juvenile periodontitis be explained by neural developmental fields in the jaws? (9083580)
1997
49
Site-specificity of tooth agenesis in subjects with maxillary canine malpositions. (8974184)
1996
50
Prevalence of tooth agenesis correlated with jaw relationship and dental crowding. (3463196)
1986

Variations for Tooth Agenesis

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Clinvar genetic disease variations for Tooth Agenesis:

5 (show all 27)
id Gene Variation Type Significance SNP ID Assembly Location
1EDANM_001399.4(EDA): c.193C> G (p.Arg65Gly)single nucleotide variantPathogenicrs132630319GRCh37Chr X, 68836345: 68836345
2EDANM_001399.4(EDA): c.1072C> G (p.Gln358Glu)single nucleotide variantPathogenicrs132630320GRCh37Chr X, 69255355: 69255355
3EDANM_001399.4(EDA): c.1013C> T (p.Thr338Met)single nucleotide variantPathogenicrs132630321GRCh37Chr X, 69255296: 69255296
4MSX1NM_002448.3(MSX1): c.910_911dupTA (p.Ter304Tyrfs)duplicationPathogenicrs515726227GRCh37Chr 4, 4864868: 4864869
5PAX9PAX9, 1-BP INS, 219GinsertionPathogenic
6PAX9NM_006194.3(PAX9): c.340A> T (p.Lys114Ter)single nucleotide variantPathogenicrs104894467GRCh37Chr 14, 37132437: 37132437
7PAX9PAX9, DELdeletionPathogenic
8PAX9NM_006194.3(PAX9): c.271A> G (p.Lys91Glu)single nucleotide variantPathogenicrs28933373GRCh37Chr 14, 37132368: 37132368
9PAX9NM_006194.3(PAX9): c.62T> C (p.Leu21Pro)single nucleotide variantPathogenicrs28933970GRCh37Chr 14, 37132159: 37132159
10PAX9PAX9, 288-BP INSinsertionPathogenic
11PAX9NM_006194.3(PAX9): c.83G> C (p.Arg28Pro)single nucleotide variantPathogenicrs28933971GRCh37Chr 14, 37132180: 37132180
12PAX9NM_006194.3(PAX9): c.76C> T (p.Arg26Trp)single nucleotide variantPathogenicrs28933972GRCh37Chr 14, 37132173: 37132173
13PAX9NM_006194.3(PAX9): c.259A> T (p.Ile87Phe)single nucleotide variantPathogenicrs104894468GRCh37Chr 14, 37132356: 37132356
14PAX9PAX9, 1-BP INS, 793CinsertionPathogenic
15PAX9PAX9, 1A-Gsingle nucleotide variantPathogenic
16PAX9PAX9, 3-BP DEL, 24-BP INS, NT619indelPathogenic
17PAX9NM_006194.3(PAX9): c.151G> A (p.Gly51Ser)single nucleotide variantPathogenicrs104894469GRCh37Chr 14, 37132248: 37132248
18PAX9PAX9, 1-BP INS, 190GinsertionPathogenic
19PAX9NM_006194.3(PAX9): c.139C> T (p.Arg47Trp)single nucleotide variantPathogenicrs121917720GRCh37Chr 14, 37132236: 37132236
20WNT10ANM_025216.2(WNT10A): c.637G> A (p.Gly213Ser)single nucleotide variantPathogenicrs147680216GRCh37Chr 2, 219754966: 219754966
21MSX1NM_002448.3(MSX1): c.605G> C (p.Arg202Pro)single nucleotide variantPathogenicrs121913129GRCh37Chr 4, 4864563: 4864563
22MSX1NM_002448.3(MSX1): c.577C> T (p.Gln193Ter)single nucleotide variantPathogenicrs104893850GRCh37Chr 4, 4864535: 4864535
23MSX1NM_002448.3(MSX1): c.200T> A (p.Met67Lys)single nucleotide variantPathogenicrs121913130GRCh37Chr 4, 4861826: 4861826
24MSX1MSX1, 1-BP DUP, 62GduplicationPathogenic
25WNT10AWNT10A, GLY95LYSundetermined variantPathogenic
26EDANM_001399.4(EDA): c.1094T> C (p.Val365Ala)single nucleotide variantLikely pathogenicrs397516654GRCh37Chr X, 69255377: 69255377
27WNT10ANM_025216.2(WNT10A): c.682T> A (p.Phe228Ile)single nucleotide variantPathogenicrs121908120GRCh37Chr 2, 219755011: 219755011

Expression for genes affiliated with Tooth Agenesis

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Search GEO for disease gene expression data for Tooth Agenesis.

Pathways for genes affiliated with Tooth Agenesis

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Pathways related to Tooth Agenesis according to GeneCards Suite gene sharing:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Angiogenesis (CST)
Show member pathways
10.1
2
Show member pathways
10.1BMP4, LTBP3, TGFB3
3
TGF-beta signaling pathway (KEGG)
Show member pathways
10.1BMP4, LTBP3, TGFB3
410.0AXIN2, BMP4, FGFR1, MSX1
510.0AXIN2, BMP4, FGFR1, WNT10A
610.0AXIN2, BMP4, TGFB3, WNT10A
79.9AXIN2, BMP4, MSX1, PAX9, TGFB3
8
Show member pathways
9.8BMP4, FGFR1, LTBP3, TGFA, TGFB3
9
Show member pathways
9.8BMP4, COL1A2, LTBP3, MMP20, TGFB3
10
Show member pathways
9.7BMP4, COL1A2, FGFR1, LTBP3, TGFA, TGFB3
119.6AXIN2, BMP4, FGF3, FGFR1, TGFA, TGFB3

GO Terms for genes affiliated with Tooth Agenesis

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Cellular components related to Tooth Agenesis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:000557810.0BMP4, MMP20, TGFB3, WNT10A
2extracellular matrixGO:00310129.6COL1A2, LTBP3, MMP20, TGFB3
3extracellular regionGO:00055769.3BMP4, COL1A2, EDA, FGF3, FGFR1, LTBP3

Biological processes related to Tooth Agenesis according to GeneCards Suite gene sharing:

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1salivary gland cavitationGO:006066211.0EDA, EDAR
2trachea gland developmentGO:006115311.0EDA, EDARADD
3regulation of odontogenesisGO:004248110.9MSX1, PAX9
4deltoid tuberosity developmentGO:003599310.9BMP4, PITX2
5secondary heart field specificationGO:000313910.9AXIN2, BMP4
6positive regulation of mesenchymal stem cell proliferationGO:190246210.9BMP4, LTBP3
7positive regulation of SMAD protein import into nucleusGO:006039110.8BMP4, TGFB3
8regulation of odontogenesis of dentin-containing toothGO:004248710.8BMP4, WNT10A
9salivary gland morphogenesisGO:000743510.8FGFR1, TGFB3
10organ inductionGO:000175910.7BMP4, FGF3, FGFR1
11face morphogenesisGO:006032510.6MSX1, PAX9, TGFB3
12embryonic limb morphogenesisGO:003032610.6BMP4, FGFR1, MSX1
13negative regulation of oligodendrocyte differentiationGO:004871510.4BMP4, DLX2
14cellular response to growth factor stimulusGO:007136310.4BMP4, PAX9, TGFB3
15hair follicle developmentGO:000194210.3EDA, EDAR, EDARADD, WNT10A
16negative regulation of cell proliferationGO:000828510.2AXIN2, BMP4, IRF6, MSX1, TGFB3
17cell differentiationGO:003015410.2AXIN2, DLX2, EDA, EDAR, EDARADD
18skin developmentGO:004358810.1DSP, EDA, IRF6, WNT10A
19wound healingGO:004206010.1BMP4, DSP, TGFA, TGFB3
20odontogenesisGO:004247610.1AXIN2, BMP4, COL1A2, MSX1, PAX9, PITX2
21odontogenesis of dentin-containing toothGO:004247510.0BMP4, DLX2, EDA, EDAR, EDARADD, MSX1
22brain developmentGO:00074209.9BMP4, DLX2, FGFR1, PITX2
23positive regulation of transcription from RNA polymerase II promoterGO:00459449.7BMP4, DLX2, MSX1, PAX9, PITX2, TGFB3
24extracellular matrix organizationGO:00301989.5BMP4, COL1A2, LTBP3, MMP20, TGFB3

Molecular functions related to Tooth Agenesis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta bindingGO:005043110.9LTBP3, TGFB3
2growth factor activityGO:000808310.5BMP4, FGF3, TGFA, TGFB3
3transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:000122810.1DLX2, MSX1, PAX9
4protein bindingGO:00055157.7AXIN2, BMP4, CHDH, COL1A2, DLX2, DSP

Sources for Tooth Agenesis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet