FAIRsharing record for: Cerebrotendinous Xanthomatosis Ontology
收藏DataCite Commons2024-12-05 更新2025-04-15 收录
下载链接：
https://fairsharing.org/10.25504/FAIRsharing.619eqr
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资源简介：
This FAIRsharing record describes: 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.
提供机构：
FAIRsharing
创建时间：
2018-02-22
