(Q2869820)

English

Kjer's optic neuropathy

medical condition

autosomal dominant optic atrophy, classic form
Optic Atrophy type 1
OPTIC ATROPHY 1; OPA1
Kjer optic atrophy
Kjer-Type Optic Atrophy
Autosomal dominant optic atrophy, Kjer type
OPTIC ATROPHY 1
OPA1
Optic Atrophy, Kjer Type
Optic Atrophy, Juvenile
optic atrophy 1

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Statements

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autosomal dominant optic atrophy

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

3 July 2018

1 reference

24 November 2020

autosomal dominant disease

1 reference

24 November 2020

0 references

4 references

13 August 2019

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

stated in

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000198836/MONDO_0008134

based on heuristic

inferred from an Open Targets association score over 0.7

NCI Thesaurus ID

C169000

0 references

exact match

http://www.orpha.net/ORDO/Orphanet_98673

0 references

http://purl.obolibrary.org/obo/DOID_0111441

1 reference

24 November 2020

http://identifiers.org/doid/DOID:0111441

1 reference

stated in

Identifiers.org

reference URL

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

Identifiers

1 reference

24 November 2020

1 reference

imported from Wikimedia project

1 reference

28 October 2013

Genetics Home Reference Conditions ID

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

0 references

1 reference

imported from Wikimedia project

English Wikipedia

Microsoft Academic ID

0 references

0 references

1 reference

imported from Wikimedia project

English Wikipedia

165500

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

3 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

3 July 2018

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

3 July 2018

0 references

Kjer's optic neuropathy

0 references

Sitelinks

Wikipedia(6 entries)

bswiki Autosomna dominantna očna atrofija
enwiki Kjer's optic neuropathy
eswiki Atrofia óptica de Kjer
frwiki Atrophie optique type I
ruwiki Оптическая нейропатия Кьера
ttwiki Кьер синдромы

(Q2869820)

Kjer's optic neuropathy

Statements

Identifiers

Sitelinks

Wikipedia(6 entries)

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)