(Q28065641)

English

isolated microphthalmia 5

Human disease

MCOP5
microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen

In more languages

Statements

0 references

class of disease

0 references

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

genetic disease

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

autosomal recessive disease

1 reference

Disease Ontology

30 November 2021

Disease Ontology ID

isolated microphthalmia

1 reference

Disease Ontology

30 November 2021

Disease Ontology ID

health specialty

medical genetics

0 references

genetic association

2 references

A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000235718/Orphanet_251279

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0060837

1 reference

Disease Ontology

30 November 2021

Disease Ontology ID

http://identifiers.org/doid/DOID:0060837

1 reference

Identifiers.org

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

Identifiers

Disease Ontology ID

1 reference

Disease Ontology

30 November 2021

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

UniProt disease ID

0 references

Sitelinks

Wikipedia(0 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)

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