(Q18589315)

English

Cataract-microcornea syndrome

Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism

Cataract microcornea syndrome
Microcornea cataract syndrome

In more languages

Statements

0 references

class of disease

0 references

rare genetic eye disease

0 references

symptoms and signs

0 references

0 references

genetic association

2 references

Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000244752/Orphanet_1377

based on heuristic

inferred from an Open Targets association score over 0.7

2 references

Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000160202/Orphanet_1377

based on heuristic

inferred from an Open Targets association score over 0.7

1 reference

Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000121634/Orphanet_1377

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_1377

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

GARD rare disease ID

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

Sitelinks

Wikipedia(2 entries)

dewiki Katarakt-Mikrokornea-Syndrom
enwiki Cataract-microcornea syndrome

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)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q18589315&oldid=2087245381"