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



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: Oct 16 2021 12:38 a.m.


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

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Publications

Cerebrotendinous xanthomatosis.

Bjorkhem I
Curr Opin Lipidol 2013

View Paper (PubMed) View Publication

CTX Ontology Display

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