MCID: UVS001
MIFTS: 40

Uv-Sensitive Syndrome

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Uv-Sensitive Syndrome

MalaCards integrated aliases for Uv-Sensitive Syndrome:

Name: Uv-Sensitive Syndrome 12 26 60 38 30 6 15 41 74
Uvss 54 26
Ultraviolet Sensitive Syndrome 26
Uv Sensitive Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
uv-sensitive syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0060240
KEGG 38 H02131
MeSH 45 563466
UMLS via Orphanet 75 C1833561
Orphanet 60 ORPHA178338
UMLS 74 C1833561

Summaries for Uv-Sensitive Syndrome

Genetics Home Reference : 26 UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population.

MalaCards based summary : Uv-Sensitive Syndrome, also known as uvss, is related to cockayne syndrome and xeroderma pigmentosum, variant type, and has symptoms including dry skin An important gene associated with Uv-Sensitive Syndrome is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor), and among its related pathways/superpathways are Nucleotide excision repair and Ubiquitin mediated proteolysis. Affiliated tissues include skin, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

Disease Ontology : 12 An autosomal recessive disease characterized by photosensitivity and liver spots (solar lentigines).

Wikipedia : 77 UV-sensitive syndrome is a cutaneous condition inherited in an autosomal recessive fashion,... more...

Related Diseases for Uv-Sensitive Syndrome

Diseases in the Uv-Sensitive Syndrome family:

Uv-Sensitive Syndrome 1 Uv-Sensitive Syndrome 2
Uv-Sensitive Syndrome 3

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

(show all 25)
# Related Disease Score Top Affiliating Genes
1 cockayne syndrome 29.3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
2 xeroderma pigmentosum, variant type 28.4 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
3 uv-sensitive syndrome 3 12.9
4 uv-sensitive syndrome 2 12.9
5 uv-sensitive syndrome 1 12.7
6 cockayne syndrome type iii 10.3 ERCC6 ERCC8
7 cockayne syndrome type i 10.2 ERCC4 ERCC6 ERCC8
8 cerebrooculofacioskeletal syndrome 1 10.2 ERCC2 ERCC5 ERCC6
9 cockayne syndrome b 10.1 ERCC4 ERCC6 ERCC8 POLR2A
10 cockayne syndrome type ii 10.1 ERCC1 ERCC6 ERCC8
11 acoustic neuroma 9.9 ERCC4 ERCC5 RAD51
12 cockayne syndrome a 9.9 ERCC2 ERCC4 ERCC5 ERCC6 ERCC8
13 xeroderma pigmentosum, complementation group d 9.9 ERCC1 ERCC2 ERCC3
14 xeroderma pigmentosum, complementation group b 9.8 ERCC1 ERCC2 ERCC3 ERCC5
15 fanconi anemia, complementation group q 9.8 ERCC1 ERCC4 RAD51
16 xeroderma pigmentosum, complementation group f 9.8 ERCC1 ERCC2 ERCC4 ERCC5
17 xfe progeroid syndrome 9.8 ERCC1 ERCC4
18 fanconi anemia, complementation group r 9.8 ERCC1 ERCC4 RAD51
19 bloom syndrome 9.8 FEN1 LIG1 RAD51
20 xeroderma pigmentosum group e 9.8
21 trichothiodystrophy 1, photosensitive 9.8 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
22 fanconi anemia, complementation group t 9.7 ERCC1 ERCC4 RAD51
23 xeroderma pigmentosum, complementation group g 9.7 ERCC1 ERCC3 ERCC4 ERCC5 FEN1
24 cerebro-oculo-facio-skeletal syndrome 9.6 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
25 fanconi anemia, complementation group a 8.7 ERCC1 ERCC2 ERCC4 FEN1 RAD51 STAT1

Graphical network of the top 20 diseases related to Uv-Sensitive Syndrome:



Diseases related to Uv-Sensitive Syndrome

Symptoms & Phenotypes for Uv-Sensitive Syndrome

UMLS symptoms related to Uv-Sensitive Syndrome:


dry skin

GenomeRNAi Phenotypes related to Uv-Sensitive Syndrome according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.89 ERCC1 ERCC4 ERCC5 ERCC6 ERCC8 FEN1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.89 ERCC1 ERCC4 ERCC5 ERCC6 ERCC8 FEN1
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.7 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6

MGI Mouse Phenotypes related to Uv-Sensitive Syndrome:

47 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.34 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
2 cellular MP:0005384 10.29 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 ERCC8
3 endocrine/exocrine gland MP:0005379 10.16 ERCC1 ERCC2 ERCC3 FEN1 IGFBP5 IGFBP7
4 homeostasis/metabolism MP:0005376 10.15 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8
5 hematopoietic system MP:0005397 10.1 ERCC1 ERCC2 ERCC5 ERCC6 ERCC8 FEN1
6 immune system MP:0005387 10.02 ERCC1 ERCC2 ERCC5 ERCC6 ERCC8 FEN1
7 integument MP:0010771 10 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8
8 adipose tissue MP:0005375 9.97 ERCC1 ERCC2 ERCC6 FEN1 IGFBP5 POLG
9 mortality/aging MP:0010768 9.83 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
10 liver/biliary system MP:0005370 9.76 ERCC1 ERCC4 ERCC5 ERCC6 FEN1 LIG1
11 neoplasm MP:0002006 9.32 ERCC1 ERCC2 ERCC3 ERCC6 ERCC8 FEN1

Drugs & Therapeutics for Uv-Sensitive Syndrome

Search Clinical Trials , NIH Clinical Center for Uv-Sensitive Syndrome

Genetic Tests for Uv-Sensitive Syndrome

Genetic tests related to Uv-Sensitive Syndrome:

# Genetic test Affiliating Genes
1 Uv-Sensitive Syndrome 30 ERCC6

Anatomical Context for Uv-Sensitive Syndrome

MalaCards organs/tissues related to Uv-Sensitive Syndrome:

42
Skin

Publications for Uv-Sensitive Syndrome

Articles related to Uv-Sensitive Syndrome:

(show all 12)
# Title Authors Year
1
[Molecular cloning and characterisation of UVSSA, the responsible gene for UV-sensitive syndrome]. ( 23631307 )
2013
2
The conserved Cockayne syndrome B-piggyBac fusion protein (CSB-PGBD3) affects DNA repair and induces both interferon-like and innate antiviral responses in CSB-null cells. ( 22483866 )
2012
3
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. ( 22466610 )
2012
4
UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair. ( 22466611 )
2012
5
Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair. ( 22466612 )
2012
6
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage. ( 19329487 )
2009
7
Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts. ( 16129663 )
2006
8
UV-sensitive syndrome. ( 15916784 )
2005
9
Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome. ( 15486090 )
2004
10
Cockayne syndrome without typical clinical manifestations including neurologic abnormalities. ( 9777763 )
1998
11
A new UV-sensitive syndrome not belonging to any complementation groups of xeroderma pigmentosum or Cockayne syndrome: siblings showing biochemical characteristics of Cockayne syndrome without typical clinical manifestations. ( 7513056 )
1994
12
A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation. ( 7264357 )
1981

Variations for Uv-Sensitive Syndrome

ClinVar genetic disease variations for Uv-Sensitive Syndrome:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC6 NM_000124.3(ERCC6): c.2203C> T (p.Arg735Ter) single nucleotide variant Pathogenic rs121917901 GRCh37 Chromosome 10, 50686483: 50686483
2 ERCC6 NM_000124.3(ERCC6): c.2203C> T (p.Arg735Ter) single nucleotide variant Pathogenic rs121917901 GRCh38 Chromosome 10, 49478437: 49478437
3 ERCC6 NM_000124.3(ERCC6): c.1357C> T (p.Arg453Ter) single nucleotide variant Pathogenic rs121917902 GRCh37 Chromosome 10, 50732119: 50732119
4 ERCC6 NM_000124.3(ERCC6): c.1357C> T (p.Arg453Ter) single nucleotide variant Pathogenic rs121917902 GRCh38 Chromosome 10, 49524073: 49524073
5 ERCC6 NM_000124.3(ERCC6): c.229C> T (p.Arg77Ter) single nucleotide variant Pathogenic rs121917903 GRCh37 Chromosome 10, 50740782: 50740782
6 ERCC6 NM_000124.3(ERCC6): c.229C> T (p.Arg77Ter) single nucleotide variant Pathogenic rs121917903 GRCh38 Chromosome 10, 49532736: 49532736
7 ERCC6 NM_000124.3(ERCC6): c.4186A> G (p.Arg1396Gly) single nucleotide variant Uncertain significance rs745352643 GRCh38 Chromosome 10, 49459111: 49459111
8 ERCC6 NM_000124.3(ERCC6): c.4186A> G (p.Arg1396Gly) single nucleotide variant Uncertain significance rs745352643 GRCh37 Chromosome 10, 50667157: 50667157
9 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh38 Chromosome 10, 49470838: 49470838
10 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh37 Chromosome 10, 50678884: 50678884
11 ERCC6 NM_000124.3(ERCC6): c.2830-2A> G single nucleotide variant Pathogenic rs373227647 GRCh37 Chromosome 10, 50680518: 50680518
12 ERCC6 NM_000124.3(ERCC6): c.2830-2A> G single nucleotide variant Pathogenic rs373227647 GRCh38 Chromosome 10, 49472472: 49472472
13 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh38 Chromosome 10, 49482860: 49482860
14 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh37 Chromosome 10, 50690906: 50690906
15 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh37 Chromosome 10, 50708610: 50708610
16 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh38 Chromosome 10, 49500564: 49500564
17 ERCC6 NM_000124.3(ERCC6): c.4066G> A (p.Gly1356Ser) single nucleotide variant Uncertain significance rs574272317 GRCh37 Chromosome 10, 50667277: 50667277
18 ERCC6 NM_000124.3(ERCC6): c.4066G> A (p.Gly1356Ser) single nucleotide variant Uncertain significance rs574272317 GRCh38 Chromosome 10, 49459231: 49459231
19 ERCC6 NM_000124.2(ERCC6): c.1834C> T (p.Arg612Ter) single nucleotide variant Pathogenic/Likely pathogenic rs376526037 GRCh37 Chromosome 10, 50691550: 50691550
20 ERCC6 NM_000124.2(ERCC6): c.1834C> T (p.Arg612Ter) single nucleotide variant Pathogenic/Likely pathogenic rs376526037 GRCh38 Chromosome 10, 49483504: 49483504

Expression for Uv-Sensitive Syndrome

Search GEO for disease gene expression data for Uv-Sensitive Syndrome.

Pathways for Uv-Sensitive Syndrome

Pathways related to Uv-Sensitive Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Nucleotide excision repair hsa03420
2 Ubiquitin mediated proteolysis hsa04120

Pathways related to Uv-Sensitive Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
2
Show member pathways
12.73 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
3 12.45 ERCC1 ERCC2 ERCC3 ERCC4 FEN1 POLG
4
Show member pathways
12.34 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
5
Show member pathways
11.65 ERCC2 ERCC3 ERCC6
6 11.55 ERCC1 ERCC4 RAD51
7
Show member pathways
11.34 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
8 11.23 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6

GO Terms for Uv-Sensitive Syndrome

Cellular components related to Uv-Sensitive Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.91 ERCC8 FEN1 POLG RAD51 STAT1 USP7
2 nuclear chromosome, telomeric region GO:0000784 9.62 ERCC1 ERCC4 FEN1 RAD51
3 nucleoplasm GO:0005654 9.53 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
4 transcription factor TFIIH holo complex GO:0005675 9.48 ERCC2 ERCC3
5 transcription factor TFIIH core complex GO:0000439 9.46 ERCC2 ERCC3
6 transcription factor TFIID complex GO:0005669 9.46 ERCC1 ERCC2 ERCC3 ERCC4
7 ERCC4-ERCC1 complex GO:0070522 9.4 ERCC1 ERCC4
8 nucleotide-excision repair factor 1 complex GO:0000110 9.37 ERCC1 ERCC4
9 nucleotide-excision repair complex GO:0000109 9.26 ERCC1 ERCC4 ERCC5 ERCC8
10 nucleus GO:0005634 10.19 ENDOV ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
11 nucleolus GO:0005730 10.04 ENDOV ERCC6 FEN1 POLR2A RAD51 STAT1

Biological processes related to Uv-Sensitive Syndrome according to GeneCards Suite gene sharing:

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.93 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
2 DNA replication GO:0006260 9.92 FEN1 LIG1 POLG TOP1
3 response to oxidative stress GO:0006979 9.92 ERCC1 ERCC2 ERCC3 ERCC6 ERCC8
4 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.91 ENDOV ERCC1 ERCC4 FEN1 POLG
5 response to UV GO:0009411 9.87 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8
6 response to organic cyclic compound GO:0014070 9.85 ERCC8 IGFBP7 STAT1
7 DNA recombination GO:0006310 9.85 ERCC1 LIG1 RAD51
8 nucleotide-excision repair, DNA incision GO:0033683 9.85 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
9 nucleotide-excision repair GO:0006289 9.85 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC8
10 multicellular organism growth GO:0035264 9.84 ERCC1 ERCC2 ERCC6
11 double-strand break repair via homologous recombination GO:0000724 9.84 ERCC4 FEN1 RAD51
12 DNA duplex unwinding GO:0032508 9.84 ERCC2 ERCC3 ERCC6 ERCC8
13 transcription elongation from RNA polymerase II promoter GO:0006368 9.83 ERCC2 ERCC3 POLR2A
14 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.83 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
15 interstrand cross-link repair GO:0036297 9.8 ERCC1 ERCC4 RAD51
16 global genome nucleotide-excision repair GO:0070911 9.8 ERCC1 ERCC2 ERCC3 ERCC4
17 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.8 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
18 base-excision repair GO:0006284 9.78 ERCC6 FEN1 LIG1
19 DNA repair GO:0006281 9.77 ENDOV ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
20 7-methylguanosine mRNA capping GO:0006370 9.76 ERCC2 ERCC3 POLR2A
21 embryonic organ development GO:0048568 9.75 ERCC1 ERCC2 ERCC3
22 nucleotide-excision repair, preincision complex assembly GO:0006294 9.74 ERCC2 ERCC3 ERCC5
23 UV protection GO:0009650 9.73 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 FEN1
24 response to X-ray GO:0010165 9.72 ERCC1 ERCC6 ERCC8
25 DNA topological change GO:0006265 9.66 ERCC3 TOP1
26 mitotic recombination GO:0006312 9.65 ERCC1 RAD51
27 regulation of mitotic cell cycle phase transition GO:1901990 9.65 ERCC2 ERCC3
28 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.65 ERCC1 ERCC4 ERCC5
29 embryonic cleavage GO:0040016 9.64 ERCC2 TOP1
30 hair cell differentiation GO:0035315 9.63 ERCC2 ERCC3
31 negative regulation of telomere maintenance GO:0032205 9.62 ERCC1 ERCC4
32 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.6 ERCC1 ERCC4
33 telomeric DNA-containing double minutes formation GO:0061819 9.59 ERCC1 ERCC4
34 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.56 ERCC2 ERCC3
35 transcription-coupled nucleotide-excision repair GO:0006283 9.36 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
36 regulation of mitotic recombination GO:0000019 9.31 ERCC2
37 viral process GO:0016032 10.04 ERCC2 ERCC3 STAT1 TOP1 USP7

Molecular functions related to Uv-Sensitive Syndrome according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 double-stranded DNA binding GO:0003690 9.85 ERCC5 FEN1 RAD51 STAT1 TOP1
2 nuclease activity GO:0004518 9.83 ENDOV ERCC1 ERCC4 ERCC5 FEN1
3 protein N-terminus binding GO:0047485 9.8 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
4 DNA binding GO:0003677 9.8 ENDOV ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
5 single-stranded DNA binding GO:0003697 9.77 ERCC1 ERCC4 ERCC5 RAD51 TOP1
6 endonuclease activity GO:0004519 9.72 ENDOV ERCC1 ERCC4 ERCC5 FEN1
7 damaged DNA binding GO:0003684 9.65 ERCC1 ERCC2 ERCC3 ERCC4 FEN1
8 DNA helicase activity GO:0003678 9.58 ERCC6 ERCC8
9 insulin-like growth factor binding GO:0005520 9.58 IGFBP5 IGFBP7
10 endodeoxyribonuclease activity GO:0004520 9.57 ERCC4 ERCC5
11 RNA polymerase II CTD heptapeptide repeat kinase activity GO:0008353 9.55 ERCC2 ERCC3
12 DNA-dependent ATPase activity GO:0008094 9.55 ERCC2 ERCC3 ERCC6 ERCC8 RAD51
13 TFIID-class transcription factor complex binding GO:0001094 9.54 ERCC1 ERCC4
14 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.52 ERCC1 ERCC4
15 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.51 ERCC1 ERCC4
16 protein C-terminus binding GO:0008022 9.23 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 POLR2A
17 protein binding GO:0005515 10.43 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
18 hydrolase activity GO:0016787 10.15 ENDOV ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
19 ATP binding GO:0005524 10.1 ERCC2 ERCC3 ERCC6 LIG1 RAD51 TOP1

Sources for Uv-Sensitive Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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