(Q27677781)

English

retinitis pigmentosa 48

A retinitis pigmentosa that has material basis in mutation in the GUCA1B gene on chromosome 6p21.1.

RP48
Retinitis Pigmentosa type 48
RETINITIS PIGMENTOSA 48
RETINITIS PIGMENTOSA 48; RP48

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Statements

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class of disease

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retinitis pigmentosa

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Disease Ontology

30 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

Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0110382

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0110382

1 reference

Identifiers.org

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

Identifiers

Disease Ontology ID

1 reference

Disease Ontology

30 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

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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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