ROP
MCID: RTN012
MIFTS: 62

Retinopathy of Prematurity (ROP) malady

Eye diseases category

Summaries for Retinopathy of Prematurity

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Retinopathy of prematurity (ROP) or Terry syndrome, previously known as retrolental fibroplasia (RLF),... more...

MalaCards: Retinopathy of Prematurity, also known as retrolental fibroplasia, is related to retinitis and retinal detachment. An important gene associated with Retinopathy of Prematurity is FZD4 (frizzled family receptor 4), and among its related pathways are HIF-2-alpha transcription factor network and Signaling by VEGF. The compounds verteporfin and azd 2171 have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and retina, and related mouse phenotypes are vision/eye and skeleton.

Description from OMIM:46 133780

Aliases & Classifications for Retinopathy of Prematurity

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8Disease Ontology, 42NIH Rare Diseases, 46OMIM, 10DISEASES, 60UMLS, 56SNOMED-CT, 27ICD9CM, 34MeSH, 39NCIt, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases


Aliases & Descriptions:

retinopathy of prematurity 8 42 46 10 60
retrolental fibroplasia 8 42
premature retinopathy 8
rop 42


External Ids:

Disease Ontology8 DOID:13025
ICD9CM27 362.21, 362.20
MeSH34 D012178
NCIt39 C34982
ICD1025 H35.1

Related Diseases for Retinopathy of Prematurity

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17GeneCards, 18GeneDecks
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Diseases in the Retinopathy of Prematurity family:

Ndp-Related Retinopathy of Prematurity

Diseases related to Retinopathy of Prematurity via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 134)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis31.3SAG
2retinal detachment30.7SERPINF1, VEGFA, FZD4, NDP
3exudative vitreoretinopathy30.6NDP, FZD4, TSPAN12
4vascular disease30.6KDR, ANGPT2, VEGFA
5retinoblastoma30.5SERPINF1, CDKN1C, SAG
6retinal disease30.5NDP, SAG, VEGFA, ANGPT2, IGF1, KDR
7retinal vascular disease30.3NDP, VEGFA, KDR, SERPINF1
8macular holes30.1SERPINF1, ANGPT2
9hemangioma30.1KDR, ANGPT2, VEGFA
10refractive error10.4
11skin hemangioma10.4
12choroiditis10.4
13bilateral retinoblastoma10.3
14ndp-related retinopathy of prematurity10.3
15cystoid macular edema10.2
16astigmatism10.2
17hyperglycemia10.2
18myopia10.2
19strabismus10.2
20hypertrophic scars10.1
21ischemic retinopathy10.1
22periventricular leukomalacia10.1
23paralytic ileus10.1
24familial retinoblastoma10.1
25cycloplegia10.1
26coloboma10.1
27digeorge syndrome10.1
28chorioamnionitis10.1
29funisitis10.1
30neuronitis10.1
31protein s deficiency10.1
32cortical blindness10.1
33tetralogy of fallot10.1
34vitreous detachment10.1
35patent ductus arteriosus10.1
36cataract10.1
37glaucoma10.1
38laryngitis10.1
39retinoschisis10.1
40thrombocytopenia10.1
41age related macular degeneration10.0VEGFA
42hypertension10.0IGF1
43malaria10.0KDR
44nephrotic syndrome10.0CCL11
45myocardial infarction10.0CCL11
46myeloid leukemia10.0IL9
47tetanus10.0IL9
48severe combined immunodeficiency10.0IL9
49leiomyoma10.0CCL11
50eales disease10.0SAG

Graphical network of the top 20 diseases related to Retinopathy of Prematurity:



Diseases related to retinopathy of prematurity

Clinical Features for Retinopathy of Prematurity

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46OMIM
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Clinical features from OMIM:

133780

Drugs & Therapeutics for Retinopathy of Prematurity

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Retinopathy of Prematurity

Drug clinical trials:

Search ClinicalTrials for Retinopathy of Prematurity

Search NIH Clinical Center for Retinopathy of Prematurity

Search CenterWatch for Retinopathy of Prematurity

Genetic Tests for Retinopathy of Prematurity

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Anatomical Context for Retinopathy of Prematurity

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32MalaCards
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MalaCards organs/tissues related to Retinopathy of Prematurity:

32
Eye, Endothelial, Retina, Brain, Lung, Breast, Colon, Placenta

Animal Models for Retinopathy of Prematurity or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Retinopathy of Prematurity:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539110.2NDP, SAG, FZD4, ANGPT2, EPAS1, SERPINF1
2MP:000539010.2HP1BP3, CDKN1C, IGF1, VEGFA, NDP
3MP:000538510.1TSPAN12, NDP, FZD4, ANGPT2, IGF1, CDKN1C
4MP:000363110.0NDP, SAG, EPAS1, SERPINF1
5MP:00053879.9IGF1, ANGPT2, VEGFA, CCL11, CDKN1C, EPAS1
6MP:00053979.9CCL11, VEGFA, IGF1, CDKN1C, EPO, EPAS1
7MP:00053769.8IGF1, ANGPT2, VEGFA, FZD4, CDKN1C, EPO

Publications for Retinopathy of Prematurity

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50PubMed
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Articles related to Retinopathy of Prematurity:

(show top 50)    (show all 579)
idTitleAuthorsYear
1
Corrected VEGF levels based on platelet count should be calculated. Concerning the article by B.m. Levesque et Al.: low urine vascular endothelial growth factor levels are associated with mechanical ventilation, bronchopulmonary dysplasia and retinopathy of prematurity [neonatology 2013;104:56-64]. (24216600)
2014
2
Incidence and main risk factors for severe retinopathy of prematurity in infants weighing less than 1000 grams in Brazil. (23771954)
2013
3
An updated study of the use of bevacizumab in the treatment of patients with prethreshold retinopathy of prematurity in taiwan. (22967867)
2013
4
Lack of association of VEGF gene 3'- UTR polymorphisms (C702T, C936T and G1612A) and the risk of developing advanced retinopathy of prematurity (ROP). (22227643)
2013
5
Effects of oxygen on the development and severity of retinopathy of prematurity. (24200805)
2013
6
Lower target oxygen saturation levels in preterm infants are associated with increased mortality and decreased rates of retinopathy of prematurity. (23975207)
2013
7
Ultrasonographic findings in eyes with retinopathy of prematurity in malaysia. (23466765)
2013
8
Vascular endothelial growth factor and insulin-like growth factor-1 in preterm infants with retinopathy of prematurity. (24356758)
2013
9
Socioeconomics of retinopathy of prematurity care in the United States. (24141758)
2013
10
Pain assessment in premature infants treated with intravitreal antiangiogenic therapy for retinopathy of prematurity under topical anesthesia. (22619071)
2013
11
Exudative retinopathy and detachment: a late reactivation of retinopathy of prematurity after intravitreal bevacizumab. (23607977)
2013
12
Capillary-free vascularized retina in patients with aggressive posterior retinopathy of prematurity and late retinal capillary formation. (23542906)
2013
13
Development of refractive error in individual children with regressed retinopathy of prematurity. (23920368)
2013
14
Low urine vascular endothelial growth factor levels are associated with mechanical ventilation, bronchopulmonary dysplasia and retinopathy of prematurity. (23711562)
2013
15
Subclinical macular findings in infants screened for retinopathy of prematurity with spectral-domain optical coherence tomography. (23672969)
2013
16
Short-term outcome after intravitreal ranibizumab injections for the treatment of retinopathy of prematurity. (23221964)
2013
17
Retinopathy of prematurity in English neonatal units: a national population-based analysis using NHS operational data. (24361602)
2013
18
Serum erythropoietin, insulin-like growth factor 1, and vascular endothelial growth factor in etiopathogenesis of retinopathy of prematurity. (24221462)
2013
19
The rate of change in retinal vessel width and tortuosity in eyes at risk for retinopathy of prematurity. (23084379)
2012
20
Changing spectrum of retinopathy of prematurity (ROP) and variations among siblings of multiple gestation. (22002316)
2012
21
Refractive outcome of premature infants with or without retinopathy of prematurity at 2 years of age: a prospective controlled cohort study. (22453068)
2012
22
Free radical status in retinopathy of prematurity. (23542575)
2012
23
Factors given by birth and oxygen therapy in relation to development of retinopathy of prematurity. (22924254)
2012
24
A hybrid form of retinopathy of prematurity. (22096143)
2012
25
Bevacizumab for retinopathy of prematurity. (22551614)
2012
26
Continuous glucose monitoring and retinopathy of prematurity. (21948025)
2012
27
Understanding retinopathy of prematurity: update on pathogenesis. (21968165)
2011
28
Is retinopathy of prematurity seasonal? Implications for screening and treatment. (21378991)
2011
29
Biochemical markers of oxidative stress and retinopathy of prematurity. (21550188)
2011
30
Low gestational age and chronic lung disease are synergistic risk factors for retinopathy of prematurity. (21621351)
2011
31
Analysis of incidence and risk factors of retinopathy of prematurity among very-low-birth-weight infants in North Taiwan. (22192259)
2011
32
Laser-ranibizumab treatment for retinopathy of prematurity in umbral-preumbral disease. Three years of experience. (22380989)
2011
33
Correlation between placental histopathology and fetal/neonatal outcome: chorioamnionitis and funisitis are associated to intraventricular haemorrage and retinopathy of prematurity in preterm newborns. (20528214)
2011
34
Anesthesia experience in a child affected by congenital cystic adenomatoid malformation and retinopathy of prematurity for eye laser procedure--a case report. (21991743)
2011
35
Retinopathy of prematurity care: screening to vitrectomy. (21139474)
2011
36
Bevacizumab for retinopathy of prematurity. (21675896)
2011
37
Bevacizumab for retinopathy of prematurity. (21323546)
2011
38
The role of hemoglobin variant replacement in retinopathy of prematurity. (21630072)
2011
39
Contribution of early glycemic status in the development of severe retinopathy of prematurity in a cohort of ELBW infants. (21415837)
2011
40
Acquired vasoproliferative retinal tumor: a late sequela of retinopathy of prematurity. (21911679)
2011
41
Comparison of UK and US screening criteria for detection of retinopathy of prematurity in a developing nation. (21093333)
2010
42
A data-driven approach to retinopathy of prematurity prevention leads to dramatic change. (20697215)
2010
43
Evaluation of risk factors for postoperative prolonged intubation in premature infants after cryotherapy for retinopathy of prematurity. (20643363)
2010
44
A new, theoretically safer method of intravitreal injection of bevacizumab in progressive retinopathy of prematurity using scleral trans-illumination. (20558426)
2010
45
Retinopathy of Prematurity and Shaken Baby Syndrome. (19873954)
2009
46
Human recombinant erythropoietin and the incidence of retinopathy of prematurity: a multiple regression model. (18589385)
2008
47
Assessment of the contribution of insulin-like growth factor I receptor 3174 G-->A polymorphism to the progression of advanced retinopathy of prematurity. (18050122)
2007
48
Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity. (9152134)
1997
49
Retinopathy of prematurity and cortical blindness. (7761236)
1995
50
Similarity of familial exudative vitreoretinopathy and retinopathy of prematurity. (6687800)
1983

Genetic Variations for Retinopathy of Prematurity

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Retinopathy of Prematurity:

62 (show all 20)
id Symbol AA change Variation ID SNP ID
1FZD4p.Met105ValVAR_038947
2FZD4p.Met157ValVAR_038948
3FZD4p.Pro33SerVAR_063920rs61735304
4FZD4p.Gly36AspVAR_063921
5FZD4p.Glu40GlnVAR_063922
6FZD4p.His69TyrVAR_063923rs80358282
7FZD4p.Met105ThrVAR_063924
8FZD4p.Ile114ThrVAR_063925
9FZD4p.Cys181ArgVAR_063927
10FZD4p.Cys204ArgVAR_063929
11FZD4p.Cys204TyrVAR_063930
12FZD4p.Met223LysVAR_063931
13FZD4p.Ile256ValVAR_063932
14FZD4p.Trp335CysVAR_063933
15FZD4p.Met342ValVAR_063934
16FZD4p.Arg417GlnVAR_063936
17FZD4p.Thr445ProVAR_063937
18FZD4p.Gly488AspVAR_063938
19FZD4p.Ser497PheVAR_063939
20FZD4p.Gly525ArgVAR_063940

Expression for genes affiliated with Retinopathy of Prematurity

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Retinopathy of Prematurity

Search GEO for disease gene expression data for Retinopathy of Prematurity.

Pathways for genes affiliated with Retinopathy of Prematurity

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37NCBI BioSystems Database, 53Reactome, 51QIAGEN, 29KEGG
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Pathways related to Retinopathy of Prematurity according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4EPAS1
2
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10.4KDR, VEGFA
3
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10.3IL9, ANGPT2, CCL11
4
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10.3EPAS1, EPO, VEGFA
510.3KDR, IGF1, VEGFA
610.3VEGFA, IGF1, CDKN1C
7
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10.3KDR, EPAS1, VEGFA
810.3VEGFA, ANGPT2, IGF1, EPO
910.3FZD4, VEGFA, IGF1, KDR
10
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10.2SERPINF1, IL9, CXCL10, ANGPT2, CCL11
1110.2VEGFA, ANGPT2, IGF1, EPO, KDR
12
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10.2KDR, IL9, IGF1, FZD4, TUBGCP6
13
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10.2CCL11, ANGPT2, IGF1, CXCL10, IL9, KDR
14
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10.2IL9, CXCL10, IGF1, ANGPT2, CCL11, KDR
15
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10.1CCL11, FZD4, ANGPT2, IGF1, CXCL10, IL9
16
Hide members
10.1CCL11, SAG, FZD4, VEGFA, IGF1, CXCL10

Compounds for genes affiliated with Retinopathy of Prematurity

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Sources:
44Novoseek, 28IUPHAR, 49PharmGKB, 11DrugBank, 59Tocris Bioscience, 24HMDB, 2BitterDB
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Compounds related to Retinopathy of Prematurity according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
1verteporfin4410.8SERPINF1, VEGFA
2azd 21714410.7KDR, VEGFA
3triamcinolone acetonide44 2811.7SERPINF1, EPO, VEGFA
4su66684410.7VEGFA, KDR
5ptk7874410.7VEGFA, KDR
6erlotinib44 49 1112.7VEGFA, IGF1, KDR
7topotecan44 1111.7EPO, IGF1, VEGFA
8celecoxib44 59 28 49 11 2415.7VEGFA, ANGPT2, EPO, KDR
9infliximab44 49 1112.7CXCL10, ANGPT2, VEGFA
10progestin4410.7KDR, IGF1, ANGPT2, VEGFA
11pge24410.7CCL11, SAG, VEGFA
12suramin44 28 1112.7VEGFA, IGF1, CXCL10, KDR
13dexamethasone44 49 28 1113.6CCL11, VEGFA, ANGPT2, KDR, SERPINF1
14hydrocortisone44 2 59 1113.6KDR, CXCL10, EPO, IGF1
15tarc4410.6IL9, CXCL10, CCL11
16trastuzumab44 49 1112.6KDR, ANGPT2, VEGFA
17zd64744410.6KDR, VEGFA
18heparin44 28 11 2413.6SERPINF1, VEGFA, CCL11
19octreotide44 59 28 1113.6VEGFA, IGF1, EPO
20matrigel4410.6CCL11, VEGFA, ANGPT2, CXCL10, KDR, SERPINF1
21nandrolone decanoate44 1111.6IGF1, EPO
22allergens4410.6CCL11, CXCL10, IL9
23ly2940024410.6CCL11, VEGFA, ANGPT2, IGF1, EPO, KDR
24genistein44 28 59 2 11 2415.6CCL11, VEGFA, IGF1, CXCL10, IL9, KDR
25cyclosporin a44 28 5912.6CCL11, SAG, ANGPT2, EPO, KDR
26nitric oxide44 11 2412.5CCL11, FZD4, ANGPT2, CXCL10, IL9, KDR
27thymidine44 2411.5CCL11, ANGPT2, IGF1, EPO, CXCL10, IL9
28retinoic acid44 2411.5CCL11, ANGPT2, IGF1, CXCL10, IL9, KDR
29carboplatin44 49 1112.5VEGFA, EPO, KDR
30phosphatidylinositol4410.5CCL11, ANGPT2, IGF1, EPO, CXCL10, KDR
31nandrolone44 2411.5EPO, IGF1
32n acetylcysteine4410.5SERPINF1, KDR, VEGFA, CCL11
33axitinib44 59 1112.4KDR, VEGFA
34vegf4410.4CCL11, VEGFA, ANGPT2, IGF1, EPO, EPAS1
35su54164410.4KDR, VEGFA
36oxygen44 2411.3CCL11, SAG, ANGPT2, EPO, EPAS1, SERPINF1
37thalidomide44 49 59 1113.3VEGFA, EPO, KDR
38tyrosine4410.3SERPINF1, CCL11, SAG, FZD4, VEGFA, ANGPT2
39lenalidomide44 1111.3EPO, VEGFA
40rapamycin4410.0KDR, EPO, IGF1, VEGFA

GO Terms for genes affiliated with Retinopathy of Prematurity

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16Gene Ontology
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Cellular components related to Retinopathy of Prematurity according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00557610.0DEFB127, VEGFA, ANGPT2, IGF1, EPO, CXCL10
2extracellular spaceGO:0056159.7SERPINF1, CCL11, NDP, VEGFA, ANGPT2, IGF1

Biological processes related to Retinopathy of Prematurity according to GeneCards/GeneDecks:

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1extracellular matrix-cell signalingGO:03542610.7FZD4, NDP
2surfactant homeostasisGO:04312910.7VEGFA, EPAS1, KDR
3regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:06141810.6VEGFA, EPO, EPAS1
4branching morphogenesis of an epithelial tubeGO:04875410.6KDR, IGF1, VEGFA
5retina vasculature morphogenesis in camera-type eyeGO:06129910.6FZD4, NDP
6positive regulation of angiogenesisGO:04576610.6CCL11, VEGFA, ANGPT2, KDR
7negative regulation of angiogenesisGO:01652510.6ANGPT2, CXCL10, SERPINF1
8cell maturationGO:04846910.6KDR, EPAS1, VEGFA
9positive regulation of endothelial cell proliferationGO:00193810.6KDR, VEGFA, CCL11
10positive regulation of positive chemotaxisGO:05092710.6KDR, VEGFA
11vasculogenesisGO:00157010.5FZD4, VEGFA, KDR
12positive regulation of cell proliferationGO:00828410.5KDR, IL9, CXCL10, EPO, IGF1, VEGFA
13positive regulation of focal adhesion assemblyGO:05189410.5VEGFA, KDR
14angiogenesisGO:00152510.5TSPAN12, KDR, NAA15, EPAS1, ANGPT2, VEGFA
15positive regulation of transcription, DNA-dependentGO:04589310.5NAA15, EPO, CDKN1C, IGF1, FZD4, NDP
16cellular response to hypoxiaGO:07145610.5EPAS1, EPO, VEGFA
17negative regulation of cell-substrate adhesionGO:01081210.5FZD4, ANGPT2
18signal transductionGO:00716510.4CCL11, NDP, ANGPT2, IGF1, EPO, EPAS1
19cell migration involved in sprouting angiogenesisGO:00204210.4KDR, VEGFA
20positive regulation of tyrosine phosphorylation of Stat5 proteinGO:04252310.4EPO, IGF1
21regulation of cell shapeGO:00836010.2CCL11, VEGFA, KDR
22positive regulation of Ras protein signal transductionGO:04657910.1EPO, IGF1

Molecular functions related to Retinopathy of Prematurity according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1growth factor activityGO:00808310.3IL9, IGF1, VEGFA, NDP

Products for genes affiliated with Retinopathy of Prematurity

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Sources for Retinopathy of Prematurity

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet