(Q27677796)

English

retinitis pigmentosa 51

retinitis pigmentosa that has material basis in mutation in the TTC8 gene on chromosome 14q31

RP51
RETINITIS PIGMENTOSA 51; RP51
retinitis pigmentosa type 51
RETINITIS PIGMENTOSA 51

In more languages

Statements

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class of disease

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retinitis pigmentosa

1 reference

Disease Ontology

29 November 2021

Disease Ontology ID

genetic disease

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

genetic association

2 references

UniProt protein ID

13 August 2019

A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0110398

1 reference

Disease Ontology

29 November 2021

Disease Ontology ID

http://identifiers.org/doid/DOID:0110398

1 reference

Identifiers.org

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

Identifiers

Disease Ontology ID

1 reference

Disease Ontology

29 November 2021

Disease Ontology ID

2 references

Disease Ontology

28 August 2019

Disease Ontology ID

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

UniProt disease ID

0 references

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