standards > terminology artifact > DOI:10.25504/FAIRsharing.619eqr


ready 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/3025

Developed in Spain

Created in 2012

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How to cite this record FAIRsharing.org: CTX; Cerebrotendinous Xanthomatosis Ontology; DOI: https://doi.org/10.25504/FAIRsharing.619eqr; Last edited: Jan. 8, 2019, 1:29 p.m.; Last accessed: Mar 20 2019 6:53 a.m.


Record updated: Dec. 1, 2016, 9:48 p.m. by The FAIRsharing Team.

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Contact Maria Taboada

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Publications

Cerebrotendinous xanthomatosis.

Bjorkhem I
Curr Opin Lipidol 2013

View Paper (PubMed) View Publication


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