(Q2397009)

English

choroideremia

rare, X-linked recessive form of hereditary retinal degeneration

progressive Choroidal Atrophy
CHM

In more languages

Statements

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hereditary disorder

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choroid disease

1 reference

Disease Ontology

30 November 2021

Disease Ontology ID

0 references

health specialty

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genetic association

2 references

Aberrant splicing of the CHM gene is a significant cause of choroideremia

Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing

on focus list of Wikimedia project

WikiProject Medicine

0 references

363.55

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

NCI Thesaurus ID

C34469

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

http://purl.obolibrary.org/obo/DOID_9821

1 reference

Disease Ontology

30 November 2021

Disease Ontology ID

http://identifiers.org/doid/DOID:9821

1 reference

Identifiers.org

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

http://purl.obolibrary.org/obo/HP_0001139

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

Identifiers

MeSH descriptor ID

subject named as

Choroideremia

2 references

Disease Ontology

15 May 2019

Disease Ontology ID

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

0 references

C11.941.160.300

0 references

C16.320.290.142

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C16.320.322.092

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PatientsLikeMe condition ID

0 references

0 references

Disease Ontology ID

1 reference

Disease Ontology

30 November 2021

Disease Ontology ID

1 reference

imported from Wikimedia project

English Wikipedia

1 reference

Freebase Data Dumps

publication date

28 October 2013

GARD rare disease ID

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

Genetics Home Reference Conditions ID

0 references

Human Phenotype Ontology ID

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

ICD-11 (foundation)

0 references

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Microsoft Academic ID

0 references

0 references

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

1 reference

26 January 2022

https://docs.openalex.org/download-snapshot/snapshot-data-format

0 references

2 references

Disease Ontology

15 May 2019

Disease Ontology ID

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

UniProt disease ID

0 references

WikiProjectMed ID

0 references

Sitelinks

Wikipedia(12 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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