MCID: EXD008
MIFTS: 55

Exudative Vitreoretinopathy 1

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

Aliases & Classifications for Exudative Vitreoretinopathy 1

MalaCards integrated aliases for Exudative Vitreoretinopathy 1:

Name: Exudative Vitreoretinopathy 1 54 29 69
Retinopathy of Prematurity 54 12 50 24 56 29 42 14 69
Familial Exudative Vitreoretinopathy, Autosomal Dominant 23 24 29
Retrolental Fibroplasia 12 50 56
Adfevr 23 24
Rop 50 56
Autosomal Dominant Familial Exudative Vitreoretinopathy 71
Vitreoretinopathy, Exudative 1 71
Criswick-Schepens Syndrome 71
Premature Retinopathy 12
Fevr 71
Evr1 71

Characteristics:

Orphanet epidemiological data:

56
retinopathy of prematurity
Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or early childhood
some patients may be asymptomatic
slowly progressive disorder
clinical variability
absence of premature birth, low birthweight, and exposure to oxygen
genetic heterogeneity, see evr2 , evr3 , and evr4


HPO:

32
exudative vitreoretinopathy 1:
Onset and clinical course slow progression infantile onset
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance When using fluorescein angiography to determine clinical status, penetrance is reported to be 100% because all affected individuals have a sector of avascular peripheral retina [ober et al 1980]. ...

Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 133780
Disease Ontology 12 DOID:13025
ICD9CM 35 362.20 362.21
MeSH 42 D012178
NCIt 47 C34982
Orphanet 56 ORPHA90050
MESH via Orphanet 43 D012178
UMLS via Orphanet 70 C0035344
ICD10 via Orphanet 34 H35.1
UMLS 69 C0035344

Summaries for Exudative Vitreoretinopathy 1

OMIM : 54
Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by Poulter et al., 2010). (133780)

MalaCards based summary : Exudative Vitreoretinopathy 1, also known as retinopathy of prematurity, is related to astigmatism and fzd4-related familial exudative vitreoretinopathy, autosomal dominant, and has symptoms including retinal detachment, premature birth and reduced visual acuity. An important gene associated with Exudative Vitreoretinopathy 1 is FZD4 (Frizzled Class Receptor 4), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and Ras signaling pathway. The drugs Ribavirin and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include retina, bone and eye, and related phenotypes are cardiovascular system and cellular

UniProtKB/Swiss-Prot : 71 Vitreoretinopathy, exudative 1: A disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. In many ways the disease resembles retinopathy of prematurity but there is no evidence of prematurity or small birth weight in the patient history.

GeneReviews: NBK1147

Related Diseases for Exudative Vitreoretinopathy 1

Diseases in the Exudative Vitreoretinopathy family:

Exudative Vitreoretinopathy 7 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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 90)
id Related Disease Score Top Affiliating Genes
1 astigmatism 30.6 FZD4 LRP5 NDP
2 fzd4-related familial exudative vitreoretinopathy, autosomal dominant 12.2
3 lrp5-related familial exudative vitreoretinopathy, autosomal dominant 12.2
4 tspan12-related familial exudative vitreoretinopathy, autosomal dominant 12.2
5 ndp-related retinopathy of prematurity 12.0
6 exudative vitreoretinopathy 2, x-linked 10.8
7 exudative vitreoretinopathy 5 10.8
8 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 10.8
9 exudative vitreoretinopathy 3 10.8
10 exudative vitreoretinopathy 4 10.8
11 adult brain ependymoma 10.8 FZD4 NDP TSPAN12
12 microcephaly and chorioretinopathy, autosomal recessive, 1 10.7
13 hyperostosis, endosteal 10.7 CTNNB1 FZD4 LRP5 NDP
14 kidney pelvis papillary carcinoma 10.6 FLT1 KDR VEGFA
15 nystagmus 5, congenital, x-linked 10.6 FZD4 LRP5 NDP TSPAN12
16 coloboma of superior eyelid 10.6 FLT1 KDR VEGFA
17 bipolar i disorder 10.6 ANGPT2 EPO VEGFA
18 male reproductive organ cancer 10.6 CTNNB1 VEGFA
19 cutaneous leishmaniasis 10.6 ANGPT2 TEK VEGFA
20 vesiculobullous skin disease 10.6 KDR TEK VEGFA
21 lens disease 10.5 FLT1 KDR VEGFA
22 charcot-marie-tooth disease intermediate type 10.5 CTNNB1 FZD4 LRP5 NDP TSPAN12
23 pyruvate kinase deficiency, muscle type 10.5 ANGPT2 TEK VEGFA
24 lipoic acid synthetase deficiency 10.5 ANGPT2 FLT1 VEGFA
25 testicular granulosa cell tumor 10.5 FZD4 LRP5 NDP TSPAN12 VEGFA
26 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 10.5 FZD4 KDR NDP TSPAN12 VEGFA
27 mitral valve stenosis 10.5 FLT1 KDR VEGFA
28 neuropathy, hereditary sensory and autonomic, type vi 10.5 ANGPT2 FLT1 IGF1 VEGFA
29 lichen planus 10.4 EPO TEK VEGFA
30 subdural empyema 10.4 FLT1 KDR TEK VEGFA
31 retinitis 10.4
32 chikungunya 10.4 FLT1 KDR TEK VEGFA
33 diabetes mellitus, insulin-dependent, 3 10.4 ANGPT2 KDR VEGFA
34 renal fibrosis 10.4 ANGPT2 KDR TEK VEGFA
35 bardet-biedl syndrome 10.4 CTNNB1 IGF1 VEGFA
36 testicular leydig cell tumor 10.4 ANGPT2 FLT1 KDR TEK
37 endotheliitis 10.4
38 hematopoietic stem cell transplantation 10.3 ANGPT2 KDR TEK VEGFA
39 hidradenoma 10.2 ANGPT2 FLT1 KDR TEK VEGFA
40 histiocytic and dendritic cell cancer 10.2 FLT1 IGF1 KDR VEGFA
41 salivary gland adenoid cystic carcinoma 10.2 FLT1 VEGFA
42 mucinous tubular and spindle renal cell carcinoma 10.2 KDR TEK VEGFA
43 citrullinemia, adult-onset type ii 10.1 ANGPT2 FLT1 IGF1 KDR TEK VEGFA
44 norrie disease 10.1
45 refractive error 10.1
46 retinal detachment 10.1
47 insulin-like growth factor i 9.9
48 choroiditis 9.9
49 exudative vitreoretinopathy 9.9
50 retinoblastoma 9.9

Graphical network of the top 20 diseases related to Exudative Vitreoretinopathy 1:



Diseases related to Exudative Vitreoretinopathy 1

Symptoms & Phenotypes for Exudative Vitreoretinopathy 1

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
decreased visual acuity
blindness
retinal exudates
falciform retinal folds
macular ectopia
more
Skeletal:
low bone density
increased fracture rate


Clinical features from OMIM:

133780

Human phenotypes related to Exudative Vitreoretinopathy 1:

32 (show all 18)
id Description HPO Frequency HPO Source Accession
1 retinal detachment 32 HP:0000541
2 premature birth 32 hallmark (90%) HP:0001622
3 reduced visual acuity 32 HP:0007663
4 blindness 32 occasional (7.5%) HP:0000618
5 recurrent fractures 32 HP:0002757
6 small for gestational age 32 hallmark (90%) HP:0001518
7 pigmentary retinal degeneration 32 HP:0001146
8 retinal exudate 32 HP:0001147
9 tractional retinal detachment 32 occasional (7.5%) HP:0007917
10 peripheral retinal avascularization 32 HP:0007685
11 vitreous hemorrhage 32 occasional (7.5%) HP:0007902
12 retinal neovascularization 32 HP:0030666
13 retinal arteriolar tortuosity 32 occasional (7.5%) HP:0001136
14 falciform retinal fold 32 HP:0001493
15 abnormality of the macula 32 occasional (7.5%) HP:0001103
16 subcapsular cataract 32 HP:0000523
17 posterior vitreous detachment 32 HP:0001489
18 exudative vitreoretinopathy 32 HP:0030490

UMLS symptoms related to Exudative Vitreoretinopathy 1:


hyperoxia

MGI Mouse Phenotypes related to Exudative Vitreoretinopathy 1:

44 (show all 14)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.38 ANGPT2 CTNNB1 EPO FLT1 FZD4 IGF1
2 cellular MP:0005384 10.34 ANGPT2 ATP7B CD38 CTNNB1 EPO FLT1
3 homeostasis/metabolism MP:0005376 10.32 ANGPT2 ATP7B CD38 CTNNB1 EPO FLT1
4 hematopoietic system MP:0005397 10.24 ATP7B CD38 CTNNB1 EPO FLT1 IGF1
5 mortality/aging MP:0010768 10.22 EPO FLT1 FZD4 IGF1 KDR LRP5
6 immune system MP:0005387 10.2 ANGPT2 ATP7B CD38 CTNNB1 EPO FLT1
7 embryo MP:0005380 10.16 KDR LRP5 SERPINH1 TEK VEGFA CTNNB1
8 integument MP:0010771 10.09 ANGPT2 ATP7B CTNNB1 EPO FZD4 IGF1
9 muscle MP:0005369 10.07 IGF1 KDR TCAP TEK VEGFA ATP7B
10 nervous system MP:0003631 10.06 SERPINH1 TEK VEGFA ATP7B CTNNB1 FLT1
11 normal MP:0002873 9.96 CTNNB1 EPO FLT1 FZD4 IGF1 INPP5J
12 pigmentation MP:0001186 9.55 ATP7B CTNNB1 FZD4 LRP5 NDP
13 respiratory system MP:0005388 9.5 ANGPT2 CTNNB1 EPO IGF1 KDR SERPINH1
14 vision/eye MP:0005391 9.32 ANGPT2 CTNNB1 FLT1 FZD4 KDR LRP5

Drugs & Therapeutics for Exudative Vitreoretinopathy 1

Drugs for Exudative Vitreoretinopathy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ribavirin Approved Phase 1 36791-04-5 37542
2 Anti-Infective Agents Phase 1
3 Antiviral Agents Phase 1
4 interferons Phase 1
5 Pharmaceutical Solutions Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Safety, Antiviral Activity and PK of MRD of BI 201335 in Chronic Hepatitis C Patients Both Treatment Naive and -Experienced Completed NCT00793793 Phase 1 BI201335;BI201335;BI201335;BI201335;Placebo

Search NIH Clinical Center for Exudative Vitreoretinopathy 1

Cochrane evidence based reviews: retinopathy of prematurity

Genetic Tests for Exudative Vitreoretinopathy 1

Genetic tests related to Exudative Vitreoretinopathy 1:

id Genetic test Affiliating Genes
1 Exudative Vitreoretinopathy 1 29
2 Retinopathy of Prematurity 29 24 FZD4
3 Familial Exudative Vitreoretinopathy, Autosomal Dominant 29 24 TSPAN12 FZD4 LRP5

Anatomical Context for Exudative Vitreoretinopathy 1

MalaCards organs/tissues related to Exudative Vitreoretinopathy 1:

39
Retina, Bone, Eye

Publications for Exudative Vitreoretinopathy 1

Variations for Exudative Vitreoretinopathy 1

UniProtKB/Swiss-Prot genetic disease variations for Exudative Vitreoretinopathy 1:

71 (show all 23)
id Symbol AA change Variation ID SNP ID
1 FZD4 p.Met105Val VAR_038947 rs80358284
2 FZD4 p.Met157Val VAR_038948 rs80358286
3 FZD4 p.Gly36Asp VAR_063921 rs80358281
4 FZD4 p.Glu40Gln VAR_063922 rs139401671
5 FZD4 p.His69Tyr VAR_063923 rs80358282
6 FZD4 p.Met105Thr VAR_063924 rs80358285
7 FZD4 p.Ile114Thr VAR_063925
8 FZD4 p.Cys181Arg VAR_063927 rs80358287
9 FZD4 p.Cys204Arg VAR_063929 rs80358288
10 FZD4 p.Cys204Tyr VAR_063930
11 FZD4 p.Met223Lys VAR_063931
12 FZD4 p.Ile256Val VAR_063932 rs104894223
13 FZD4 p.Trp335Cys VAR_063933 rs80358292
14 FZD4 p.Met342Val VAR_063934 rs80358293
15 FZD4 p.Arg417Gln VAR_063936 rs80358294
16 FZD4 p.Thr445Pro VAR_063937 rs80358297
17 FZD4 p.Gly488Asp VAR_063938 rs80358298
18 FZD4 p.Ser497Phe VAR_063939 rs80358300
19 FZD4 p.Gly525Arg VAR_063940
20 LRP5 p.Arg348Trp VAR_063948
21 LRP5 p.Asp381Asn VAR_076548
22 LRP5 p.Arg624Trp VAR_076549
23 LRP5 p.Tyr1517Cys VAR_076550 rs201030241

ClinVar genetic disease variations for Exudative Vitreoretinopathy 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FZD4 NM_012193.3(FZD4): c.1479_1484delGTGGAT (p.Met493_Trp494del) deletion Pathogenic rs80358301 GRCh37 Chromosome 11, 86662314: 86662319
2 FZD4 NM_012193.3(FZD4): c.1501_1502delCT (p.Leu501Serfs) deletion Pathogenic rs80358303 GRCh37 Chromosome 11, 86662296: 86662297
3 FZD4 NM_012193.3(FZD4): c.1250G> A (p.Arg417Gln) single nucleotide variant Pathogenic rs80358294 GRCh37 Chromosome 11, 86662548: 86662548
4 FZD4 NM_012193.3(FZD4): c.1024A> G (p.Met342Val) single nucleotide variant Pathogenic rs80358293 GRCh37 Chromosome 11, 86662774: 86662774
5 FZD4 NM_012193.3(FZD4): c.1005G> C (p.Trp335Cys) single nucleotide variant Pathogenic rs80358292 GRCh37 Chromosome 11, 86662793: 86662793
6 FZD4 NM_012193.3(FZD4): c.766A> G (p.Ile256Val) single nucleotide variant Pathogenic rs104894223 GRCh37 Chromosome 11, 86663032: 86663032
7 CTNNB1 NM_001904.3(CTNNB1): c.1434_1435insC (p.Glu479Argfs) insertion Pathogenic rs1057519379 GRCh38 Chromosome 3, 41233777: 41233778
8 CTNNB1 NM_001904.3(CTNNB1): c.2128C> T (p.Arg710Cys) single nucleotide variant Pathogenic rs748653573 GRCh37 Chromosome 3, 41279558: 41279558
9 CTNNB1 NM_001904.3(CTNNB1): c.2142_2157dup16 (p.His720Terfs) duplication Pathogenic rs1057519380 GRCh37 Chromosome 3, 41280629: 41280644

Expression for Exudative Vitreoretinopathy 1

Search GEO for disease gene expression data for Exudative Vitreoretinopathy 1.

Pathways for Exudative Vitreoretinopathy 1

Pathways related to Exudative Vitreoretinopathy 1 according to GeneCards Suite gene sharing:

(show all 21)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.16 CTNNB1 FLT1 FZD4 IGF1 KDR TEK
2
Show member pathways
12.51 ANGPT2 CTNNB1 FLT1 IGF1 KDR TEK
3
Show member pathways
12.42 CTNNB1 FZD4 IGF1 KDR LRP5 VEGFA
4
Show member pathways
12.34 FLT1 FZD4 IGF1 KDR LRP5
5 12.14 ANGPT2 CTNNB1 EPO FLT1 FZD4 IGF1
6
Show member pathways
12.11 FLT1 FZD4 KDR TEK
7 12.11 CTNNB1 FZD4 IGF1 KDR VEGFA
8 12.05 CTNNB1 FZD4 LRP5 VEGFA
9 11.96 ANGPT2 FLT1 KDR TEK
10 11.94 CTNNB1 FLT1 KDR VEGFA
11
Show member pathways
11.72 CTNNB1 FLT1 KDR VEGFA
12 11.71 FLT1 TEK VEGFA
13 11.67 ANGPT2 FLT1 KDR TEK
14 11.62 CDKN1C CTNNB1 LRP5
15 11.48 CDKN1C IGF1 SERPINH1 VEGFA
16 11.45 CTNNB1 LRP5 TEK
17 11.38 EPO IGF1 VEGFA
18 11.24 ANGPT2 EPO VEGFA
19 11.1 ANGPT2 EPO FLT1 IGF1 TEK VEGFA
20 11.09 EPO FLT1 KDR VEGFA
21 10.84 FLT1 KDR TEK VEGFA

GO Terms for Exudative Vitreoretinopathy 1

Cellular components related to Exudative Vitreoretinopathy 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.1 CD38 EPO FZD4 NDP TEK VEGFA
2 Wnt signalosome GO:1990909 8.96 CTNNB1 LRP5

Biological processes related to Exudative Vitreoretinopathy 1 according to GeneCards Suite gene sharing:

(show all 36)
id Name GO ID Score Top Affiliating Genes
1 Wnt signaling pathway GO:0016055 9.94 CTNNB1 FZD4 LRP5 NDP
2 positive regulation of cell migration GO:0030335 9.92 FLT1 IGF1 KDR VEGFA
3 positive regulation of cell proliferation GO:0008284 9.91 CTNNB1 EPO FLT1 IGF1 KDR LRP5
4 kidney development GO:0001822 9.85 CDKN1C CTNNB1 VEGFA
5 positive regulation of sequence-specific DNA binding transcription factor activity GO:0051091 9.85 CTNNB1 FZD4 LRP5 NDP
6 response to hypoxia GO:0001666 9.83 ANGPT2 CD38 EPO TEK VEGFA
7 negative regulation of angiogenesis GO:0016525 9.82 ANGPT2 CTNNB1 TEK
8 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.82 FLT1 KDR VEGFA
9 positive regulation of endothelial cell proliferation GO:0001938 9.81 KDR TEK VEGFA
10 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.8 EPO IGF1 VEGFA
11 positive regulation of MAPK cascade GO:0043410 9.8 CTNNB1 FLT1 IGF1 KDR
12 canonical Wnt signaling pathway GO:0060070 9.78 CTNNB1 FZD4 LRP5 NDP
13 positive regulation of endothelial cell migration GO:0010595 9.77 KDR TEK VEGFA
14 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.76 FLT1 IGF1 KDR TEK
15 positive regulation of angiogenesis GO:0045766 9.72 ANGPT2 FLT1 KDR TEK VEGFA
16 positive regulation of mesenchymal cell proliferation GO:0002053 9.71 CTNNB1 LRP5 VEGFA
17 vasculogenesis GO:0001570 9.71 CTNNB1 FZD4 KDR VEGFA
18 positive regulation of focal adhesion assembly GO:0051894 9.7 KDR TEK VEGFA
19 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.69 FLT1 KDR VEGFA
20 gastrulation with mouth forming second GO:0001702 9.67 CTNNB1 LRP5
21 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.66 FLT1 VEGFA
22 cell migration involved in sprouting angiogenesis GO:0002042 9.66 KDR VEGFA
23 negative regulation of cell-substrate adhesion GO:0010812 9.65 ANGPT2 FZD4
24 positive regulation of positive chemotaxis GO:0050927 9.65 KDR VEGFA
25 cardiac muscle fiber development GO:0048739 9.63 TCAP VEGFA
26 angiogenesis GO:0001525 9.63 ANGPT2 FLT1 KDR TEK TSPAN12 VEGFA
27 vascular endothelial growth factor signaling pathway GO:0038084 9.61 FLT1 KDR
28 positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway GO:0038033 9.59 KDR VEGFA
29 retinal blood vessel morphogenesis GO:0061304 9.58 FZD4 LRP5
30 glomerulus vasculature development GO:0072012 9.58 ANGPT2 TEK
31 Tie signaling pathway GO:0048014 9.56 ANGPT2 TEK
32 positive regulation of transcription, DNA-templated GO:0045893 9.56 CD38 CDKN1C CTNNB1 EPO FZD4 IGF1
33 retina vasculature morphogenesis in camera-type eye GO:0061299 9.43 FZD4 LRP5 NDP
34 extracellular matrix-cell signaling GO:0035426 8.8 FZD4 LRP5 NDP
35 signal transduction GO:0007165 10.26 ANGPT2 CD38 CTNNB1 EPO FZD4 IGF1
36 negative regulation of apoptotic process GO:0043066 10.04 CD38 EPO IGF1 KDR TEK VEGFA

Molecular functions related to Exudative Vitreoretinopathy 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.33 FLT1 KDR TEK
2 vascular endothelial growth factor-activated receptor activity GO:0005021 9.26 FLT1 KDR
3 growth factor binding GO:0019838 9.13 FLT1 KDR TEK
4 Wnt-activated receptor activity GO:0042813 8.8 FZD4 LRP5 TSPAN12

Sources for Exudative Vitreoretinopathy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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