Standards > terminology artifact > bsg-s002797

ready Cerebrotendinous Xanthomatosis Ontology


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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.

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


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Cerebrotendinous xanthomatosis.

Bjorkhem I
Curr Opin Lipidol 2013

View Paper (PubMed) View Paper (DOI)