FEVR
MCID: EXD001
MIFTS: 47

Exudative Vitreoretinopathy (FEVR) malady

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases

Aliases & Classifications for Exudative Vitreoretinopathy

Aliases & Descriptions for Exudative Vitreoretinopathy:

Name: Exudative Vitreoretinopathy 12 29 13 14 69
Familial Exudative Vitreoretinopathy 12 50 24 25 56
Fevr 12 50 24 25 56
Exudative Vitreoretinopathy, Familial 50 29
Criswick-Schepens Syndrome 50 56
Exudative Vitreoretinopathy 1 69

Characteristics:

Orphanet epidemiological data:

56
familial exudative vitreoretinopathy
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:



External Ids:

Disease Ontology 12 DOID:0050535
ICD10 33 H35.00
ICD9CM 35 362.10
Orphanet 56 ORPHA891
ICD10 via Orphanet 34 H35.0
MESH via Orphanet 43 C536382
UMLS via Orphanet 70 C0339539 C1851402
UMLS 69 C0004608

Summaries for Exudative Vitreoretinopathy

NIH Rare Diseases : 50 familial exudative vitreoretinopathy (fevr) is a hereditary disorder that can cause progressive vision loss. this condition affects the retina, the light-sensitive tissue that lines the back of the eye, by preventing blood vessels from forming at the edges of the retina. this reduces the blood supply to retina. the signs and symptoms include vision loss or blindness, retinal detachment, strabismus, and a visible whiteness (leukocoria) in the normally black pupil. the severity of fevr varies widely, even within the same family. many people with this condition do not experience any vision problems.fevr has different inheritance patterns depending on the gene involved. most individuals have the autosomal dominant form of this condition, caused by mutations in the fzd4 or lrp5 gene. fevr caused by lrp5 gene mutations can also have an autosomal recessive inheritance. when this condition is caused by mutations in the ndp gene, it has an x-linked pattern of inheritance. last updated: 3/4/2011

MalaCards based summary : Exudative Vitreoretinopathy, also known as familial exudative vitreoretinopathy, is related to astigmatism and exudative vitreoretinopathy 1. An important gene associated with Exudative Vitreoretinopathy is FZD4 (Frizzled Class Receptor 4), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and Glioma. Affiliated tissues include retina, eye and testes, and related phenotypes are Decreased substrate adherent cell growth and embryo

Disease Ontology : 12 A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina.

Genetics Home Reference : 25 Familial exudative vitreoretinopathy is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the specialized light-sensitive tissue that lines the back of the eye. The disorder prevents blood vessels from forming at the edges of the retina, which reduces the blood supply to this tissue.

Wikipedia : 71 Familial exudative vitreoretinopathy (FEVR) (/ˈfiːvər/ FEE-vər) is a genetic disorder affecting the... more...

Related Diseases for Exudative Vitreoretinopathy

Diseases in the Exudative Vitreoretinopathy family:

Exudative Vitreoretinopathy 5 Exudative Vitreoretinopathy 3
Exudative Vitreoretinopathy 6 Exudative Vitreoretinopathy 4
Exudative Vitreoretinopathy 1 Lrp5-Related Familial Exudative Vitreoretinopathy, Autosomal Recessive
Fzd4-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant Lrp5-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant
Tspan12-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant

Diseases related to Exudative Vitreoretinopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
id Related Disease Score Top Affiliating Genes
1 astigmatism 30.0 FZD4 LRP5 NDP
2 exudative vitreoretinopathy 1 12.4
3 exudative vitreoretinopathy 5 12.3
4 exudative vitreoretinopathy 3 12.3
5 exudative vitreoretinopathy 4 12.3
6 exudative vitreoretinopathy 2, x-linked 12.3
7 exudative vitreoretinopathy 6 12.3
8 x-linked familial exudative vitreoretinopathy 12.2
9 lrp5-related familial exudative vitreoretinopathy, autosomal recessive 12.0
10 fzd4-related familial exudative vitreoretinopathy, autosomal dominant 12.0
11 lrp5-related familial exudative vitreoretinopathy, autosomal dominant 12.0
12 tspan12-related familial exudative vitreoretinopathy, autosomal dominant 12.0
13 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.0
14 retinitis 10.5
15 norrie disease 10.4
16 retinal detachment 10.3
17 breast osteosarcoma 10.1 FZD4 NDP RCBTB1 TSPAN12
18 nystagmus 5, congenital, x-linked 10.1 FZD4 LRP5 NDP TSPAN12
19 biemond syndrome ii 10.1 FZD4 NDP RCBTB1 TSPAN12
20 van buchem disease, type 2 10.1 FZD4 LRP5 NDP
21 anterograde amnesia 10.1 FZD4 LRP5 NDP TSPAN12
22 albinism, oculocutaneous, type ib 10.1 FZD4 LRP5 NDP TSPAN12
23 vernal conjunctivitis 10.1 FZD4 LRP5 NDP TSPAN12 ZNF408
24 cornea plana 10.0 FZD4 NDP TSPAN12
25 coats disease 10.0
26 osteoporosis 10.0
27 choroiditis 10.0
28 myopia 10.0
29 digeorge syndrome 10.0
30 cutis marmorata telangiectatica congenita 9.8
31 macular holes 9.8
32 muscular atrophy 9.8
33 cataract 9.8
34 chorioretinitis 9.8
35 lymphedema 9.8
36 spinal muscular atrophy 9.8
37 cone dystrophy 9.8
38 cystic fibrosis 9.8
39 persistent hyperplastic primary vitreous 9.8
40 open-angle glaucoma 9.8
41 microcephaly 9.8
42 osteoporosis-pseudoglioma syndrome 9.8
43 anisometropia 9.8
44 dyskeratosis congenita 9.8
45 hypermethioninemia 8.3 CAMK2G CRYZL1 DUP22Q11.2 EVR3 FZD1 FZD4

Graphical network of the top 20 diseases related to Exudative Vitreoretinopathy:



Diseases related to Exudative Vitreoretinopathy

Symptoms & Phenotypes for Exudative Vitreoretinopathy

GenomeRNAi Phenotypes related to Exudative Vitreoretinopathy according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-3 8.92 CAMK2G FZD1 FZD7
2 Decreased substrate adherent cell growth GR00193-A-4 8.92 CAMK2G

MGI Mouse Phenotypes related to Exudative Vitreoretinopathy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.56 FZD6 FZD7 KIF11 LRP5 ZFPM1 FZD1
2 pigmentation MP:0001186 9.02 FZD1 FZD4 FZD7 LRP5 NDP

Drugs & Therapeutics for Exudative Vitreoretinopathy

Interventional clinical trials:


id Name Status NCT ID Phase
1 Clinical and Genetic Studies of Familial Exudative Vitreoretinopathy Completed NCT00106756

Search NIH Clinical Center for Exudative Vitreoretinopathy

Genetic Tests for Exudative Vitreoretinopathy

Genetic tests related to Exudative Vitreoretinopathy:

id Genetic test Affiliating Genes
1 Familial Exudative Vitreoretinopathy 29 24 NDP FZD4 LRP5
2 Exudative Vitreoretinopathy 29

Anatomical Context for Exudative Vitreoretinopathy

MalaCards organs/tissues related to Exudative Vitreoretinopathy:

39
Retina, Eye, Testes

Publications for Exudative Vitreoretinopathy

Articles related to Exudative Vitreoretinopathy:

(show top 50) (show all 175)
id Title Authors Year
1
RETINAL VASCULAR TORTUOSITY AND EXUDATIVE RETINOPATHY IN A FAMILY WITH DYSKERATOSIS CONGENITA MASQUERADING AS FAMILIAL EXUDATIVE VITREORETINOPATHY. ( 27685501 )
2017
2
Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy. ( 27228167 )
2016
3
Pharmacologic Activation of Wnt Signaling by Lithium Normalizes Retinal Vasculature in a Murine Model of Familial Exudative Vitreoretinopathy. ( 27524797 )
2016
4
Familial Exudative Vitreoretinopathy With a Novel LRP5 Mutation. ( 27486893 )
2016
5
Re: Yonekawa etA al.: Familial exudative vitreoretinopathy: spectral-domain optical coherence tomography of the vitreoretinal interface, retina, and choroid (Ophthalmology 2015;122:2270-7). ( 27107366 )
2016
6
Anatomical and functional outcomes following vitrectomy for advanced familial exudative vitreoretinopathy: a single surgeon's experience. ( 27793819 )
2016
7
Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy. ( 26908610 )
2016
8
Large Deletions of TSPAN12 Cause Familial Exudative Vitreoretinopathy (FEVR). ( 28002565 )
2016
9
Ultra-wide-field scanning laser ophthalmoscopy assists in the clinical detection and evaluation of asymptomatic early-stage familial exudative vitreoretinopathy. ( 27416933 )
2016
10
Electroretinographic effects of retinal dragging and retinal folds in eyes with familial exudative vitreoretinopathy. ( 27456314 )
2016
11
Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis. ( 27212378 )
2016
12
A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy. ( 27720678 )
2016
13
Retinopathy of Prematurity Versus Familial Exudative Vitreoretinopathy: Report on Clinical and Angiographic Findings. ( 26731204 )
2016
14
Novel mutations in FZD4 and phenotype-genotype correlation in Chinese patients with familial exudative vitreoretinopathy. ( 27555740 )
2016
15
DISTINCTIVE WHITE FUNDUS LESIONS IN FAMILIAL EXUDATIVE VITREORETINOPATHY: A NEWLY CHARACTERIZED CLINICAL FEATURE. ( 27648585 )
2016
16
A family harboring homozygous FZD4 deletion supports the existence of recessive FZD4-related familial exudative vitreoretinopathy. ( 27668459 )
2016
17
Simultaneous Novel Mutations of LRP5 and TSPAN12 in a Case of Familial Exudative Vitreoretinopathy. ( 27007396 )
2016
18
INCREASED POSTERIOR RETINAL VESSELS IN MILD ASYMPTOMATIC FAMILIAL EXUDATIVE VITREORETINOPATHY EYES. ( 26655609 )
2016
19
Mutations in ATOH7 gene in patients with nonsyndromic congenital retinal nonattachment and familial exudative vitreoretinopathy. ( 26933893 )
2016
20
Familial exudative vitreoretinopathy: A report of an asymptomatic case with autosomal dominant inheritance detected using FZD4 molecular analysis. ( 27746066 )
2016
21
SURGICAL MANAGEMENT OF ADVANCED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH COMPLICATIONS. ( 26807630 )
2016
22
CTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype. ( 26967979 )
2016
23
Familial Exudative Vitreoretinopathy: Spectral-Domain Optical Coherence Tomography ofA theA Vitreoretinal Interface, Retina, and Choroid. ( 26299697 )
2015
24
Structure and Morphology of Radial Retinal Folds with Familial Exudative Vitreoretinopathy. ( 26477845 )
2015
25
Molecular Characterization of FZD4, LRP5, and TSPAN12 in Familial Exudative Vitreoretinopathy. ( 26244290 )
2015
26
Association of autosomal dominant familial exudative vitreoretinopathy and spinal muscular atrophy. ( 26109022 )
2015
27
Familial Exudative Vitreoretinopathy: Presentation in the First Week of Life. ( 26431558 )
2015
28
A case of familial exudative vitreoretinopathy identified after genetic testing. ( 25828824 )
2015
29
Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy. ( 26530129 )
2015
30
Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients. ( 25711638 )
2015
31
KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy. ( 26472404 )
2015
32
The Intracellular Loop 2 F328S Frizzled-4 Mutation Implicated in Familial Exudative Vitreoretinopathy Impairs Dishevelled Recruitment. ( 27096003 )
2015
33
Novel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy. ( 25352738 )
2014
34
Familial exudative vitreoretinopathy mimicking macular telangiectasia type 1. ( 24513378 )
2014
35
Surgical Outcomes of Progressive Tractional Retinal Detachment Associated With Familial Exudative Vitreoretinopathy. ( 25127701 )
2014
36
An association between subclinical familial exudative vitreoretinopathy and rod-cone dystrophy. ( 25494382 )
2014
37
Diversity of Retinal Vascular Anomalies in Patients with Familial Exudative Vitreoretinopathy. ( 25005911 )
2014
38
Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy. ( 24715757 )
2014
39
High Prevalence of Peripheral Retinal Vascular Anomalies in Family Members ofA Patients with Familial Exudative Vitreoretinopathy. ( 24084499 )
2014
40
Identification of the cellular mechanisms that modulate trafficking of frizzled family receptor 4 (FZD4) missense mutants associated with familial exudative vitreoretinopathy. ( 24744206 )
2014
41
Phenotypic Overlap Between Familial Exudative Vitreoretinopathy and Microcephaly, Lymphedema, and Chorioretinal Dysplasia Caused by KIF11 Mutations. ( 25124931 )
2014
42
Familial exudative vitreoretinopathy and related retinopathies. ( 25323851 )
2014
43
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. ( 23716654 )
2013
44
Asymmetric presentations of familial exudative vitreoretinopathy. ( 24082676 )
2013
45
Familial Exudative Vitreoretinopathy caused by a Homozygous Mutation in TSPAN12 in a Cystic Fibrosis Infant. ( 23834558 )
2013
46
Familial exudative vitreoretinopathy presenting with unilateral rhegmatogenous retinal detachment in a Malay teenager. ( 23645703 )
2013
47
Falciform Macular Folds and Chromosome 22q11.2: Evidence in Support of a Locus for Familial Exudative Vitreoretinopathy (FEVR). ( 23521024 )
2013
48
Fluorescein angiography of a closing funnel retinal detachment in familial exudative vitreoretinopathy. ( 23929513 )
2013
49
Traction retinal detachment under silicone oil treated with two-port, 25-gauge pars plana vitrectomy and scissor segmentation in a child with familial exudative vitreoretinopathy. ( 25391101 )
2013
50
Simultaneous fzd4 and lrp5 mutation in autosomal dominant familial exudative vitreoretinopathy. ( 25390515 )
2013

Variations for Exudative Vitreoretinopathy

ClinVar genetic disease variations for Exudative Vitreoretinopathy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FZD4 NM_012193.3(FZD4): c.1282_1285delGACA (p.Asp428Serfs) deletion Pathogenic rs80358295 GRCh37 Chromosome 11, 86662513: 86662516
2 FZD4 NM_012193.3(FZD4): c.313A> G (p.Met105Val) single nucleotide variant Pathogenic rs80358284 GRCh38 Chromosome 11, 86952443: 86952443
3 RCBTB1 NM_018191.3(RCBTB1): c.1172+1G> A single nucleotide variant Likely pathogenic rs869312819 GRCh37 Chromosome 13, 50118872: 50118872

Expression for Exudative Vitreoretinopathy

Search GEO for disease gene expression data for Exudative Vitreoretinopathy.

Pathways for Exudative Vitreoretinopathy

Pathways related to Exudative Vitreoretinopathy according to GeneCards Suite gene sharing:

(show all 32)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.23 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
2
Show member pathways
13.12 CAMK2G FZD1 FZD4 FZD5 FZD6 FZD7
3
Show member pathways
12.93 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
4
Show member pathways
12.76 CAMK2G FZD1 FZD4 FZD5 FZD9
5 12.75 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
6
Show member pathways
12.64 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
7
Show member pathways
12.59 FZD1 FZD4 FZD5 FZD6 FZD8 LRP5
8
Show member pathways
12.59 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
9
Show member pathways
12.56 CAMK2G FZD1 FZD4 FZD5 FZD6 FZD7
10 12.54 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
11
Show member pathways
12.52 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
12
Show member pathways
12.45 CAMK2G FZD1 FZD4 FZD5 FZD6 FZD7
13 12.37 CAMK2G FZD1 FZD4 FZD5 FZD6 FZD7
14 12.34 CAMK2G FZD1 FZD4 FZD5 FZD6 FZD7
15 12.28 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
16
Show member pathways
12.24 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
17 12.22 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
18 12.2 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
19
Show member pathways
12.2 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
20 12.11 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
21 12.09 FZD1 FZD4 FZD5 FZD9
22 12.08 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
23 12.05 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
24 11.99 FZD4 FZD5 FZD8
25 11.77 CAMK2G FZD1 FZD4 FZD5 FZD9
26 11.76 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
27 11.72 FZD1 FZD4 FZD5 FZD9
28
Show member pathways
11.45 FZD4 FZD5 FZD6 FZD8 LRP5
29 11.33 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
30 11.06 FZD1 FZD7 FZD8
31 11.03 FZD6 LRP5
32 10.67 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8

GO Terms for Exudative Vitreoretinopathy

Cellular components related to Exudative Vitreoretinopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 Wnt signalosome GO:1990909 9.16 FZD1 LRP5
2 cell surface GO:0009986 9.1 FZD1 FZD4 FZD5 FZD6 FZD9 NDP
3 Wnt-Frizzled-LRP5/6 complex GO:1990851 8.96 FZD8 LRP5

Biological processes related to Exudative Vitreoretinopathy according to GeneCards Suite gene sharing:

(show all 22)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.98 FZD1 FZD4 FZD7 LRP5 NDP
2 neuron differentiation GO:0030182 9.8 FZD1 FZD4 FZD5 FZD7 FZD8
3 positive regulation of sequence-specific DNA binding transcription factor activity GO:0051091 9.78 FZD1 FZD4 LRP5 NDP
4 cell surface receptor signaling pathway GO:0007166 9.76 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
5 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.72 FZD1 FZD4 FZD5 FZD6 FZD7
6 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.7 FZD4 FZD5 FZD6
7 positive regulation of JUN kinase activity GO:0043507 9.69 FZD4 FZD5 FZD8
8 T cell differentiation in thymus GO:0033077 9.67 FZD5 FZD7 FZD8
9 beta-catenin destruction complex disassembly GO:1904886 9.63 FZD1 FZD5 LRP5
10 regulation of canonical Wnt signaling pathway GO:0060828 9.61 FZD5 LRP5
11 vasculature development GO:0001944 9.6 FZD5 LRP5
12 negative regulation of cell-substrate adhesion GO:0010812 9.58 FZD4 FZD7
13 non-canonical Wnt signaling pathway GO:0035567 9.57 FZD6 FZD7
14 Wnt signaling pathway involved in dorsal/ventral axis specification GO:0044332 9.55 FZD5 LRP5
15 retinal blood vessel morphogenesis GO:0061304 9.54 FZD4 LRP5
16 retina vasculature morphogenesis in camera-type eye GO:0061299 9.54 FZD4 LRP5 NDP
17 canonical Wnt signaling pathway GO:0060070 9.5 FZD1 FZD4 FZD5 FZD7 FZD8 LRP5
18 extracellular matrix-cell signaling GO:0035426 9.43 FZD4 LRP5 NDP
19 Wnt signaling pathway GO:0016055 9.28 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
20 signal transduction GO:0007165 10.19 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
21 G-protein coupled receptor signaling pathway GO:0007186 10.1 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
22 multicellular organism development GO:0007275 10.09 CAMK2G FZD1 FZD4 FZD5 FZD6 FZD7

Molecular functions related to Exudative Vitreoretinopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 G-protein coupled receptor activity GO:0004930 9.91 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
2 signal transducer activity GO:0004871 9.8 FZD1 FZD4 FZD5 FZD6 FZD8 FZD9
3 ubiquitin protein ligase binding GO:0031625 9.73 FZD4 FZD5 FZD6 FZD8
4 transmembrane signaling receptor activity GO:0004888 9.7 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
5 Wnt-activated receptor activity GO:0042813 9.61 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
6 frizzled binding GO:0005109 9.58 FZD1 FZD7 NDP
7 PDZ domain binding GO:0030165 9.56 FZD1 FZD4 FZD7 FZD8
8 Wnt-protein binding GO:0017147 9.23 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8

Sources for Exudative Vitreoretinopathy

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