(Q27677809)

English

retinitis pigmentosa 60

A retinitis pigmentosa that has material basis in mutation in the PRPF6 gene on chromosome 20q13.33.

RP60
RETINITIS PIGMENTOSA 60
retinitis pigmentosa type 60
RETINITIS PIGMENTOSA 60; RP60

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Statements

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class of disease

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retinitis pigmentosa

1 reference

Disease Ontology

15 May 2019

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 missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0110411

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

http://identifiers.org/doid/DOID:0110411

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233

Identifiers

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

2 references

Disease Ontology

28 August 2019

Disease Ontology ID

Monarch Disease Ontology release 2018-06-29

28 July 2018

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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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