(Q55998736)

English

anterior segment dysgenesis 7

human disease

Sclerocornea With Other Ocular Anomalies
CORNEAL OPACIFICATION WITH OTHER OCULAR ANOMALIES
CORNEAL OPACIFICATION WITH OTHER OCULAR ANOMALIES; COPOA
COPOA
CCMCO
ANTERIOR SEGMENT DYSGENESIS 7; ASGD7
ASGD7
congenital cataract microcornea with corneal opacity

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autosomal recessive disease

1 reference

27 November 2020

corneal opacification and other ocular anomalies

1 reference

27 November 2020

3 references

Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000130508/MONDO_0010015

based on heuristic

inferred from an Open Targets association score over 0.7

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000130508/Orphanet_289499

based on heuristic

inferred from an Open Targets association score over 0.7

exact match

http://www.orpha.net/ORDO/Orphanet_289499

0 references

http://purl.obolibrary.org/obo/DOID_0080612

1 reference

27 November 2020

http://identifiers.org/doid/DOID:0080612

1 reference

stated in

Identifiers.org

reference URL

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

Identifiers

1 reference

27 November 2020

Google Knowledge Graph ID

0 references

0 references

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

6 August 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

6 August 2018

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

6 August 2018

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

6 August 2018

0 references

Sitelinks

Wikipedia(1 entry)

dewiki CCMCO-Syndrom

(Q55998736)

anterior segment dysgenesis 7

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Identifiers

Sitelinks

Wikipedia(1 entry)

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