MCID: TWN003
MIFTS: 54

Townes-Brocks Syndrome malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Ear diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Townes-Brocks Syndrome

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Sources:
49OMIM, 10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 11diseasecard, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Townes-Brocks Syndrome:

Name: Townes-Brocks Syndrome 49 10 21 45 22 23 47 12 51 67
Townes Syndrome 45 23 51 24
Townes-Brocks Branchiootorenal-Like Syndrome 49 11 67
Renal-Ear-Anal-Radial Syndrome 45 23 51
Tbs 45 51 67
Sensorineural Deafness with Imperforate Anus and Hypoplastic Thumbs 45 51
Imperforate Anus with Hand, Foot and Ear Anomalies 45 51
 
Rear Syndrome 45 51
Deafness, Sensorineural, with Imperforate Anus and Hypoplastic Thumbs 45
Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome 23
Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome 23
Anus, Imperforate, with Hand, Foot and Ear Anomalies 45
Imperforate Anus-Hand and Foot Anomalies Syndrome 23
Anal-Ear-Renal-Radial Malformation Syndrome 23

Characteristics:

Orphanet epidemiological data:

51
townes-brocks syndrome:
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: any age

HPO:

61
townes-brocks syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 107480
Disease Ontology10 DOID:0050887
Orphanet51 857
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 C536974
UMLS via Orphanet66 C0265246

Summaries for Townes-Brocks Syndrome

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NIH Rare Diseases:45 Townes-brocks syndrome is a genetic condition characterized by an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumbs. most affected individuals have at least two of these three main features. the condition is caused by mutations in the sall1 gene which provides instructions for making proteins that are involved in the formation of tissues and organs before birth. it follows an autosomal dominant pattern of inheritance. last updated: 3/25/2015

MalaCards based summary: Townes-Brocks Syndrome, also known as townes syndrome, is related to tuberculosis and tuberculous meningitis, and has symptoms including urogenital fistula, external ear malformation and triphalangeal thumb. An important gene associated with Townes-Brocks Syndrome is SALL1 (Spalt-Like Transcription Factor 1), and among its related pathways are Glioblastoma Multiforme and Transcriptional regulation of pluripotent stem cells. Affiliated tissues include kidney, breast and uterus, and related mouse phenotypes are digestive/alimentary and embryo.

Disease Ontology:10 An autosomal dominant disease that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations.

Genetics Home Reference:23 Townes-Brocks syndrome is a genetic condition that affects several parts of the body. The most common features of this condition are an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumb. Most people with this condition have at least two of these three major features.

UniProtKB/Swiss-Prot:67 Townes-Brocks syndrome: Rare, autosomal dominant malformation syndrome with a combination of imperforate anus, triphalangeal and supernumerary thumbs, malformed ears and sensorineural hearing loss.

Description from OMIM:49 107480

GeneReviews summary for NBK1445

Related Diseases for Townes-Brocks Syndrome

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Graphical network of the top 20 diseases related to Townes-Brocks Syndrome:



Diseases related to townes-brocks syndrome

Symptoms for Townes-Brocks Syndrome

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Symptoms by clinical synopsis from OMIM:

107480

Clinical features from OMIM:

107480

Symptoms:

 51 (show all 60)
  • external ear anomalies
  • preauricular/branchial tags/appendages
  • preaxial polydactyly (hand)
  • fingerlike/triphalangeal thumb
  • anus/rectum anomalies
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • autosomal dominant inheritance
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • hearing loss/hypoacusia/deafness
  • clinodactyly of fifth finger
  • foot anomalies
  • flat foot
  • flexion deformity of toes (excluding big toe)/hammer toe/camptodactyly of toes
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • anus ectopia/anteposition/malposition
  • constipation
  • renal failure
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • coloboma of iris
  • conjunctival tumor/epibulbar dermoid
  • cataract/lens opacification
  • retinoschisis/retinal/chorioretinal coloboma
  • visual loss/blindness/amblyopia
  • strabismus/squint
  • blepharophimosis/short palpebral fissures
  • macrostomia/big mouth
  • tragus abnormal/absent
  • anomalies of the ribs
  • anomalies of spine, vertebrae and pelvis
  • ulnar deviation of fingers
  • broad/bifid thumb
  • lower limb asymmetry/hemiatrophy/hemihypertrophy
  • oligodactyly/ectrodactyly of toes
  • syndactyly of toes
  • broad/bifid big toe
  • encopresis/fecal incontinence
  • pulmonary valve atresia/stenosis/narrowing
  • congenital cardiac anomaly/malformation/cardiopathy
  • tetralogy of fallot/trilogy of fallot
  • cardiac septal defect
  • atrial septal defect/interauricular communication
  • patent ductus arteriosus
  • ectopic/horseshoe/fused kidneys
  • urethral anomalies/stenosis/posterior urethral valves/megalocystis
  • vesicorenal/vesicoureteral reflux
  • uterine/uterus/fallopian tubes anomalies
  • vagina anomalies/atresia/hydrometrocolpos/hymen imperforation
  • micropenis/small penis/agenesis
  • hypospadias/epispadias/bent penis
  • bifid scrotum
  • hypothyroidy
  • late puberty/hypogonadism/hypogenitalism
  • arnold-chiari anomaly
  • corpus callosum/septum pellucidum total/partial agenesis
  • cranial nerves palsy
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay

HPO human phenotypes related to Townes-Brocks Syndrome:

(show all 90)
id Description Frequency HPO Source Accession
1 urogenital fistula hallmark (90%) HP:0100589
2 external ear malformation hallmark (90%) HP:0008572
3 triphalangeal thumb hallmark (90%) HP:0001199
4 preaxial hand polydactyly hallmark (90%) HP:0001177
5 preauricular skin tag hallmark (90%) HP:0000384
6 microtia typical (50%) HP:0008551
7 preauricular pit typical (50%) HP:0004467
8 ectopic anus typical (50%) HP:0004397
9 clinodactyly of the 5th finger typical (50%) HP:0004209
10 constipation typical (50%) HP:0002019
11 clinodactyly of the 5th toe typical (50%) HP:0001864
12 camptodactyly of toe typical (50%) HP:0001836
13 pes planus typical (50%) HP:0001763
14 triphalangeal thumb typical (50%) HP:0001199
15 sensorineural hearing impairment typical (50%) HP:0000407
16 preauricular skin tag typical (50%) HP:0000384
17 hearing impairment typical (50%) HP:0000365
18 renal insufficiency typical (50%) HP:0000083
19 cryptorchidism typical (50%) HP:0000028
20 anal atresia 46.9697% HP:0002023
21 displacement of the external urethral meatus occasional (7.5%) HP:0100627
22 lower limb asymmetry occasional (7.5%) HP:0100559
23 cognitive impairment occasional (7.5%) HP:0100543
24 abnormal localization of kidney occasional (7.5%) HP:0100542
25 2-4 finger syndactyly occasional (7.5%) HP:0010709
26 abnormality of the tragus occasional (7.5%) HP:0009912
27 ulnar deviation of finger occasional (7.5%) HP:0009465
28 hypoplasia of penis occasional (7.5%) HP:0008736
29 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
30 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
31 cranial nerve paralysis occasional (7.5%) HP:0006824
32 short stature occasional (7.5%) HP:0004322
33 bowel incontinence occasional (7.5%) HP:0002607
34 arnold-chiari malformation occasional (7.5%) HP:0002308
35 preaxial foot polydactyly occasional (7.5%) HP:0001841
36 split foot occasional (7.5%) HP:0001839
37 toe syndactyly occasional (7.5%) HP:0001770
38 patent ductus arteriosus occasional (7.5%) HP:0001643
39 abnormality of the pulmonary valve occasional (7.5%) HP:0001641
40 tetralogy of fallot occasional (7.5%) HP:0001636
41 atria septal defect occasional (7.5%) HP:0001631
42 epibulbar dermoid occasional (7.5%) HP:0001140
43 hypothyroidism occasional (7.5%) HP:0000821
44 abnormality of the ribs occasional (7.5%) HP:0000772
45 iris coloboma occasional (7.5%) HP:0000612
46 blepharophimosis occasional (7.5%) HP:0000581
47 chorioretinal coloboma occasional (7.5%) HP:0000567
48 cataract occasional (7.5%) HP:0000518
49 visual impairment occasional (7.5%) HP:0000505
50 strabismus occasional (7.5%) HP:0000486
51 facial asymmetry occasional (7.5%) HP:0000324
52 wide mouth occasional (7.5%) HP:0000154
53 abnormality of the vagina occasional (7.5%) HP:0000142
54 renal dysplasia occasional (7.5%) HP:0000110
55 renal hypoplasia occasional (7.5%) HP:0000089
56 renal insufficiency occasional (7.5%) HP:0000083
57 vesicoureteral reflux occasional (7.5%) HP:0000076
58 bifid scrotum occasional (7.5%) HP:0000048
59 multicystic kidney dysplasia occasional (7.5%) HP:0000003
60 duane anomaly rare (5%) HP:0009921
61 stahl ear HP:0100015
62 broad thumb HP:0011304
63 short metatarsal HP:0010743
64 urethral valve HP:0010481
65 aplasia/hypoplasia of the 3rd toe HP:0010331
66 partial duplication of thumb phalanx HP:0009944
67 3-4 toe syndactyly HP:0009779
68 pseudoepiphyses of second metacarpal HP:0006179
69 3-4 finger syndactyly HP:0006097
70 rectoperineal fistula HP:0004792
71 2-3 toe syndactyly HP:0004691
72 overfolding of the superior helices HP:0004453
73 duodenal atresia HP:0002247
74 anal stenosis HP:0002025
75 gastroesophageal reflux HP:0002020
76 tetralogy of fallot HP:0001636
77 ventricular septal defect HP:0001629
78 umbilical hernia HP:0001537
79 metatarsal synostosis HP:0001440
80 intellectual disability HP:0001249
81 preaxial hand polydactyly HP:0001177
82 hypothyroidism HP:0000821
83 chorioretinal coloboma HP:0000567
84 macrotia HP:0000400
85 microcephaly HP:0000252
86 rectovaginal fistula HP:0000143
87 bifid uterus HP:0000136
88 bifid scrotum HP:0000048
89 hypospadias HP:0000047
90 cryptorchidism HP:0000028

Drugs & Therapeutics for Townes-Brocks Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Townes-Brocks Syndrome

Genetic Tests for Townes-Brocks Syndrome

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Genetic tests related to Townes-Brocks Syndrome:

id Genetic test Affiliating Genes
1 Townes-Brocks Syndrome22 SALL1

Anatomical Context for Townes-Brocks Syndrome

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MalaCards organs/tissues related to Townes-Brocks Syndrome:

33
Kidney, Breast, Uterus, Testes, Lung, Prostate, Bone

Animal Models for Townes-Brocks Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Townes-Brocks Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.8CTNNB1, EYA1, SALL1, SALL4
2MP:00053808.4CTNNB1, EYA1, SALL1, SALL2, SALL4
3MP:00053778.3CTNNB1, EYA1, SALL1, SALL4
4MP:00053678.2CTNNB1, EYA1, SALL1, SALL2, SALL4
5MP:00053908.1CTNNB1, EYA1, PLCB4, SALL1, SALL4
6MP:00036317.7CTNNB1, EYA1, PLCB4, SALL1, SALL2, SALL4
7MP:00107687.5CTNNB1, EYA1, PLCB4, SALL1, SALL2, SALL4

Publications for Townes-Brocks Syndrome

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Articles related to Townes-Brocks Syndrome:

(show top 50)    (show all 59)
idTitleAuthorsYear
1
Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report. (27073431)
2016
2
A mouse model of Townes-Brocks syndrome expressing a truncated mutant Sall1 protein is protected from acute kidney injury. (26311113)
2015
3
Variable expressivity of renal involvement in a further family with Townes-Brocks syndrome. (25192472)
2014
4
Endocrine abnormalities in Townes-Brocks syndrome. (23894113)
2013
5
A new syndrome with overlapping features of Townes-brocks syndrome and single median maxillary central incisor syndrome. (23716951)
2012
6
Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature. (22308078)
2012
7
A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene. (21253317)
2010
8
Phenotypic variability in a family with Townes-Brocks syndrome. (20520617)
2010
9
Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement. (19737635)
2009
10
Townes-Brocks syndrome--airway management conditions improve with age: report of follow up of a single case. (19236659)
2009
11
Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood. (19204018)
2009
12
Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks syndrome with Duane anomaly. (19291771)
2009
13
Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes. (20003547)
2009
14
SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes. (18470945)
2008
15
Townes-Brocks syndrome. A neonate with extended spectrum and thrombocytopenia. (18813423)
2008
16
The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome). (19005989)
2008
17
Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature. (18280297)
2008
18
Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon? (17910067)
2007
19
Mouse homolog of SALL1, a causative gene for Townes-Brocks syndrome, binds to A/T-rich sequences in pericentric heterochromatin via its C-terminal zinc finger domains. (17295837)
2007
20
Twenty-one-year-old male with congenital anomalies, obstructive uropathy and chronic renal failure: is this a case of Townes Brocks syndrome? (17668723)
2007
21
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. (17221874)
2007
22
Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome. (16429401)
2006
23
SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect. (16892410)
2006
24
Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient. (16470706)
2006
25
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. (16088922)
2005
26
Townes-Brocks syndrome. (15297694)
2004
27
Sall1, a causative gene for Townes-Brocks syndrome, enhances the canonical Wnt signaling by localizing to heterochromatin. (15158448)
2004
28
Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes. (12925729)
2003
29
Somatic mosaicism and variable expression of Townes-Brocks syndrome. (12210359)
2002
30
Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene. (11478532)
2001
31
SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin. (11751684)
2001
32
Embryonic expression of the murine homologue of SALL1, the gene mutated in Townes--Brocks syndrome. (11404093)
2001
33
SALL1 mutations in Townes-Brocks syndrome and related disorders. (11102974)
2000
34
Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome. (10819639)
2000
35
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. (9973281)
1999
36
Townes-Brocks syndrome. (10051003)
1999
37
Two cases of Townes-Brocks syndrome. (10631923)
1999
38
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. (9425907)
1998
39
Two cases of Townes-Brocks syndrome with previously undescribed anomalies. (9823498)
1998
40
Townes-Brocks syndrome presenting as end stage renal failure. (9072124)
1997
41
Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum. (8669439)
1996
42
Townes-Brocks syndrome associated with mental retardation. (8669452)
1996
43
Hearing loss in Townes-Brocks syndrome. (8084622)
1994
44
Townes-Brocks syndrome in an infant with translocation t (5;16). (8357560)
1993
45
Townes-Brocks Syndrome (20301618)
1993
46
Townes-Brocks syndrome in two mentally retarded youngsters. (1951448)
1991
47
Townes-Brocks syndrome. (2279502)
1990
48
The Townes-Brocks syndrome. (2395165)
1990
49
A new family with the Townes-Brocks syndrome. (3180506)
1988
50
Phenotypic variability in Townes-Brocks syndrome. (6741990)
1984

Variations for Townes-Brocks Syndrome

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Clinvar genetic disease variations for Townes-Brocks Syndrome:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1SALL1NM_002968.2(SALL1): c.949C> T (p.Pro317Ser)single nucleotide variantPathogenicrs864621971GRCh37Chr 16, 51175184: 51175184
2SALL1NM_002968.2(SALL1): c.3160C> Tsingle nucleotide variantPathogenicrs864321635GRCh37Chr 16, 51172973: 51172973
3SALL1SALL1, 1-BP DEL, 1268CdeletionPathogenic
4SALL1NM_002968.2(SALL1): c.1115C> A (p.Ser372Ter)single nucleotide variantPathogenicrs104894535GRCh37Chr 16, 51175018: 51175018
5SALL1NM_002968.2(SALL1): c.826C> T (p.Arg276Ter)single nucleotide variantPathogenicrs104894537GRCh37Chr 16, 51175307: 51175307
6SALL1NM_002968.2(SALL1): c.1115C> G (p.Ser372Ter)single nucleotide variantPathogenicrs104894535GRCh37Chr 16, 51175018: 51175018
7SALL1SALL1, 2-BP DEL, NT1277deletionPathogenic
8SALL1SALL1, 2-BP DEL, 1347CAdeletionPathogenic
9SALL1SALL1, 2-BP DEL, 792GCdeletionPathogenic
10SALL1NM_002968.2(SALL1): c.1256T> A (p.Leu419Ter)single nucleotide variantPathogenicrs137853084GRCh37Chr 16, 51174877: 51174877
11SALL1SALL1, 1-BP DEL, 995CdeletionPathogenic
12SALL1SALL1, 2-BP DEL, 3414ATdeletionPathogenic

Expression for genes affiliated with Townes-Brocks Syndrome

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Search GEO for disease gene expression data for Townes-Brocks Syndrome.

Pathways for genes affiliated with Townes-Brocks Syndrome

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GO Terms for genes affiliated with Townes-Brocks Syndrome

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Biological processes related to Townes-Brocks Syndrome according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1outer ear morphogenesisGO:004247310.2EYA1, SALL1
2embryonic digit morphogenesisGO:004273310.2CTNNB1, SALL1
3cellular protein localizationGO:003461310.1CTNNB1, EYA1
4ureteric bud developmentGO:000165710.1EYA1, SALL1
5kidney developmentGO:000182210.0CTNNB1, SALL1
6ventricular septum developmentGO:000328110.0SALL1, SALL4
7stem cell population maintenanceGO:00198279.9CTNNB1, SALL4
8somatic stem cell population maintenanceGO:00350199.8SALL1, SALL4
9positive regulation of transcription, DNA-templatedGO:00458939.6CTNNB1, EYA1, SALL1
10negative regulation of transcription, DNA-templatedGO:00458929.3CTNNB1, SALL1, SALL2
11negative regulation of transcription from RNA polymerase II promoterGO:00001228.6CTNNB1, SALL2, SALL4
12signal transductionGO:00071658.5CTNNB1, PLCB4, SALL1, SALL4

Molecular functions related to Townes-Brocks Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:00442129.0SALL1, SALL2, SALL4
2nucleic acid bindingGO:00036769.0SALL1, SALL2, SALL4

Sources for Townes-Brocks Syndrome

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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