(Q27677804)

English

retinitis pigmentosa 30

retinitis pigmentosa that has material basis in mutation in the FSCN2 gene on chromosome 17q25

RP30
retinitis pigmentosa type 30
RETINITIS PIGMENTOSA 30
Macular Degeneration
RETINITIS PIGMENTOSA 30; RP30

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Statements

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class of disease

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retinitis pigmentosa

1 reference

Disease Ontology

29 November 2020

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

Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0110406

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0110406

1 reference

Identifiers.org

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

Identifiers

Disease Ontology ID

1 reference

Disease Ontology

29 November 2020

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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