(Q32143627)

English

Usher syndrome type 2A

human disease

USH2A
Usher syndrome type IIA
USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA; USH2A

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0 references

0 references

Usher syndrome type 2

1 reference

30 November 2020

1 reference

13 August 2019

3 references

13 August 2019

Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000042781/MONDO_0010169

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0110838

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0110838

1 reference

stated in

Identifiers.org

reference URL

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

http://www.orpha.net/ORDO/Orphanet_231178

0 references

http://www.orpha.net/ORDO/Orphanet_886

0 references

Identifiers

MeSH descriptor ID

C536490

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

6 August 2018

1 reference

30 November 2020

1 reference

28 August 2019

2 references

28 August 2019

Monarch Disease Ontology release 2018-06-29

6 August 2018

0 references

1 reference

28 August 2019

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

0 references

(Q32143627)

Usher syndrome type 2A

Statements

Identifiers

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