bioportalbioportalbioportalbioportalFILEbiomedicinebioportalformat-owlformat-rdflodontologypublished-by-third-partyOther (Open)Oct 10, 20132013-10-10
Dataset
Cerebrotendinous xanthomatosis
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. Three groups of SQWRL queries were designed to query phenotype-genotype bidirectional…
About
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.
Three groups of SQWRL queries were designed to query phenotype-genotype bidirectional relationships.
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License
- Other (Open)