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Cerebrotendinous Xanthomatosis Ontology
Last uploaded:
April 30, 2013
Acronym | CTX |
Visibility | Public |
Description | 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. |
Status | Alpha |
Format | OWL |
Contact | Maria Taboada, maria.taboada@usc.es |
Categories | Phenotype |
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