Cerebrotendinous Xanthomatosis Ontology

Abbreviation: CTX

General Information

The ontology represents CTX phenotypes, genetic variants, and bidirectional relationships between them though a patient model. The CTX ontology was build reusing the Human Phenotype Ontology (HPO) and the Snomed ct ontologies. A set of temporal clinical manifestations are semantically annotated with a domain phenotype ontology and registered with a time-stamped value.

Homepage http://bioportal.bioontology.org/ontologies/CTX

Countries that developed this resource Spain

Created in 2012

Taxonomic range

Homo sapiens

Knowledge Domains

Subjects

How to cite this record FAIRsharing.org: CTX; Cerebrotendinous Xanthomatosis Ontology; DOI: https://doi.org/10.25504/FAIRsharing.619eqr; Last edited: Aug. 13, 2019, 4:30 p.m.; Last accessed: Mar 06 2021 10:40 a.m.

Record updated: June 24, 2019, 8:42 a.m. by The FAIRsharing Team.

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Edits to 'https://fairsharing.org/FAIRsharing.619eqr' by 'The FAIRsharing Team' at 08:42, 24 Jun 2019 (approved):

	'status' has been modified:
		Before: RDY
		After: UNC

Edits to 'https://fairsharing.org/FAIRsharing.619eqr' by 'The FAIRsharing Team' at 10:25, 03 May 2019 (approved):

	'homepage' has been modified:
		Before: http://bioportal.bioontology.org/ontologies/3025
		After: http://bioportal.bioontology.org/ontologies/CTX

Edits to 'https://fairsharing.org/FAIRsharing.619eqr' by 'The FAIRsharing Team' at 14:26, 01 May 2019 (approved):

	'onto_disciplines' has been modified:
		Before:
			Biomedical Science
			Genetics
			Preclinical and Clinical Studies
		After:
			Biomedical Science
			Genetics
			Ontology and Terminology
			Preclinical and Clinical Studies
		Added:
			Ontology and Terminology
		Removed:

	'related_standards' has been modified:
		Before:
		After:
			Human Phenotype Ontology
			Systematized Nomenclature of Medicine-Clinical Terms
		Added:
			Human Phenotype Ontology
			Systematized Nomenclature of Medicine-Clinical Terms
		Removed:

	'miriam_id' has been modified:
		Before: None
		After: 

	'contactORCID' has been modified:
		Before: 
		After: 0000-0002-2353-596X

Edits to 'https://fairsharing.org/FAIRsharing.619eqr' by 'The FAIRsharing Team' at 21:48, 01 Dec 2016 (approved):

	'name' has been modified:
		Before: Cerebrotendinous xanthomatosis
		After: Cerebrotendinous Xanthomatosis Ontology

Support

No support information provided.

Additional Information

Contact

Maria Taboada ORCID

External Links

Bioportal

http://bioportal.bioontology.org/ontologies/CTX

Tools

No tools defined

Schemas

No XSD schemas defined

Access / Retrieve Data

Conditions of Use

Publications

Cerebrotendinous xanthomatosis.

Bjorkhem I
Curr Opin Lipidol 2013

View Paper (PubMed) View Publication

CTX Ontology Display

View in BioPortal.

Disclaimer: This widget assumes the availability of the ontology resources in the NCBO BioPortal.

Related Standards

Reporting Guidelines

No guidelines defined

Terminology Artifacts

Models and Formats

No syntax standards defined

Identifier Schemas

No identifier schema standards defined

Metrics

No metrics standards defined

Related Databases (0)

No Related Databases

Implementing Policies

This record is not implemented by any policy.

Credit

Record Maintainer

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Maintains

CTX Administrators (Consortium)

Cerebrotendinous Xanthomatosis Ontology

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