Usher syndrome type 2D (Q32143660)

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human disease

• USH2D
• Usher syndrome type IID
• USHER SYNDROME, TYPE IID
• USHER SYNDROME, TYPE IID; USH2D

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Language	Label	Description	Also known as
English	Usher syndrome type 2D	human disease	USH2D Usher syndrome type IID USHER SYNDROME, TYPE IID USHER SYNDROME, TYPE IID; USH2D

Statements

instance of

rare disease

0 references

class of disease

0 references

subclass of

Usher syndrome type 2

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0110840

genetic association

WHRN

4 references

stated in

UniProt

UniProt protein ID

Q9P202

retrieved

13 August 2019

stated in

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

stated in

ClinGen

retrieved

9 December 2020

reference URL

https://search.clinicalgenome.org/kb/gene-validity/8151

stated in

ClinGen

retrieved

25 January 2022

reference URL

https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8151

on focus list of Wikimedia project

WikiProject Medicine

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0110840

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0110840

http://identifiers.org/doid/DOID:0110840

2 references

stated in

Disease Ontology

retrieved

10 July 2020

Disease Ontology ID

DOID:0110840

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

Disease Ontology ID

DOID:0110840

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0110840

ICD-10-CM

H35.5

2 references

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0110840

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

6 August 2018

Mondo ID

MONDO_0012662

Mondo ID

MONDO_0012662

0 references

OMIM ID

611383

1 reference

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0110840

611383

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

6 August 2018

Mondo ID

MONDO_0012662

UMLS CUI

C1568249

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

6 August 2018

Mondo ID

MONDO_0012662

UniProt disease ID

DI-02406

0 references

 

Sitelinks

Wikipedia(0 entries)

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Wikibooks(0 entries)

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Wikinews(0 entries)

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Wikiquote(0 entries)

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Wikisource(0 entries)

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Wikiversity(0 entries)

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Wikivoyage(0 entries)

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Wiktionary(0 entries)

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Multilingual sites(0 entries)

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