age related macular degeneration (Q830308)

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medical condition which may result in blurred or no vision in the center of the visual field

AMD
age-related macular degeneration
senile macular degeneration
senile macular retinal degeneration
Age Related Maculopathies
Age Related Maculopathy

Language	Label	Description	Also known as
English	age related macular degeneration	medical condition which may result in blurred or no vision in the center of the visual field	AMD age-related macular degeneration senile macular degeneration senile macular retinal degeneration Age Related Maculopathies Age Related Maculopathy

Statements

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class of disease

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symptom or sign

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degeneration of macula and posterior pole

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

visual impairment

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autosomal dominant disease

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

macular degeneration

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Makuladegeneration-by-RalfR.jpg
4,288 × 5,696; 4.75 MB

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spoken text audio

Macular degeneration.ogg
12 min 4 s; 6.64 MB

language of work or name

1 reference

imported from Wikimedia project

English Wikipedia

Wikimedia import URL

https://en.wikipedia.org/w/index.php?title=Macular_degeneration&oldid=917800765

health specialty

0 references

genetic association

determination method

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_10871&ncbiId=2737

http://www.genome.gov/gwastudies/index.cfm?gene=GLI3

Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis

25 May 2020

determination method

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_10871&ncbiId=6239

http://www.genome.gov/gwastudies/index.cfm?gene=RREB1

Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)

25 May 2020

determination method

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_10871&ncbiId=5890

http://www.genome.gov/gwastudies/index.cfm?gene=RAD51B

Seven new loci associated with age-related macular degeneration

25 May 2020

determination method

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_10871&ncbiId=6499

http://www.genome.gov/gwastudies/index.cfm?gene=SKIV2L

Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis

25 May 2020

determination method

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_10871&ncbiId=10452

http://www.genome.gov/gwastudies/index.cfm?gene=TOMM40

Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3

25 May 2020

determination method

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_10871&ncbiId=4855

http://www.genome.gov/gwastudies/index.cfm?gene=NOTCH4

Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3

25 May 2020

determination method

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_10871&ncbiId=5819

http://www.genome.gov/gwastudies/index.cfm?gene=PVRL2

Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis

25 May 2020

determination method

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_10871&ncbiId=629

http://www.genome.gov/gwastudies/index.cfm?gene=CFB

Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes

25 May 2020

determination method

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_10871&ncbiId=718

http://www.genome.gov/gwastudies/index.cfm?gene=C3

Seven new loci associated with age-related macular degeneration

25 May 2020

determination method

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_10871&ncbiId=145173

http://www.genome.gov/gwastudies/index.cfm?gene=B3GALTL

Seven new loci associated with age-related macular degeneration

25 May 2020

determination method

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_10871&ncbiId=7046

http://www.genome.gov/gwastudies/index.cfm?gene=TGFBR1

Seven new loci associated with age-related macular degeneration

25 May 2020

determination method

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_10871&ncbiId=7299

http://www.genome.gov/gwastudies/index.cfm?gene=TYR

Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis

25 May 2020

determination method

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_10871&ncbiId=7148

http://www.genome.gov/gwastudies/index.cfm?gene=TNXB

Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3

25 May 2020

determination method

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_10871&ncbiId=3075

http://www.genome.gov/gwastudies/index.cfm?gene=CFH

Seven new loci associated with age-related macular degeneration

25 May 2020

determination method

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_10871&ncbiId=5654

http://www.genome.gov/gwastudies/index.cfm?gene=HTRA1

HTRA1 promoter polymorphism in wet age-related macular degeneration

25 May 2020

determination method

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_10871&ncbiId=1295

http://www.genome.gov/gwastudies/index.cfm?gene=COL8A1

Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)

25 May 2020

determination method

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_10871&ncbiId=1071

http://www.genome.gov/gwastudies/index.cfm?gene=CETP

Seven new loci associated with age-related macular degeneration

25 May 2020

1 reference

HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD locus in the context of complex disease: review and perspective

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000000971/EFO_0001365

based on heuristic

inferred from an Open Targets association score over 0.7

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000140092/EFO_0001365

based on heuristic

inferred from an Open Targets association score over 0.7

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000198691/EFO_0001365

based on heuristic

inferred from an Open Targets association score over 0.7

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000205403/EFO_0001365

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

362.50

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

F84

1 reference

imported from Wikimedia project

Spanish Wikipedia

NCI Thesaurus ID

C84391

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

http://purl.obolibrary.org/obo/DOID_10871

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:10871

1 reference

Identifiers.org

https://registry.identifiers.org/registry/doid

http://purl.obolibrary.org/obo/HP_0007868

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

Commons category

Macular degeneration

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Identifiers

1 reference

imported from Wikimedia project

English Wikipedia

0 references

BNCF Thesaurus ID

1 reference

National Central Library of Florence

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

1 reference

imported from Wikimedia project

English Wikipedia

1 reference

imported from Wikimedia project

English Wikipedia

Encyclopædia Britannica Online ID

topic/age-related-macular-degeneration

subject named as

age-related macular degeneration

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Encyclopedia of China (Third Edition) ID

0 references

Experimental Factor Ontology ID

1 reference

based on heuristic

inferred by common DOID mappings on source and on Wikidata

1 reference

Freebase Data Dumps

publication date

28 October 2013

French Vikidia ID

Dégénérescence_maculaire_liée_à_l'âge

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Genetics Home Reference Conditions ID

age-related-macular-degeneration

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Human Phenotype Ontology ID

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

ICD-11 (foundation)

0 references

ICD-11 ID (MMS)

9B75.0

subject named as

Age related macular degeneration

1 reference

Wikimedia import URL

https://www.wikidata.org/w/index.php?title=Wikidata:Property_proposal/ICD-11&oldid=1015857142

macular-degeneration

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MacularDegeneration

1 reference

9 July 2020

NHS Health A to Z ID

age-related-macular-degeneration-amd

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age-related-macular-degeneration-pro

1 reference

http://www.patient.co.uk/patientplus/a.htm

1 reference

Wikimedia import URL

https://www.wikidata.org/w/index.php?title=Wikidata:Property_proposal/SNOMED_CT_identifier&oldid=741748825

2 references

Disease Ontology

15 May 2019

Disease Ontology ID

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

WikiSkripta article ID

0 references

Sitelinks

Wikipedia(3 entries)

glwiki Dexeneración macular relacionada coa idade
jawiki 加齢黄斑変性
ptwiki Degenerescência macular

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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