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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 relationships.

Data and Resources

Additional Info

Field Value
Source http://bioportal.bioontology.org/ontologies/3025
Author Maria Taboada
Maintainer BioPortal project on behalf of ontology owner.
Last Updated October 10, 2013, 19:58 (UTC)
Created May 18, 2012, 18:12 (UTC)
links:bioportal-acgt 13
links:bioportal-bdo 103
links:bioportal-birnlex 11
links:bioportal-canco 45
links:bioportal-csp 44
links:bioportal-cst 37
links:bioportal-ctcae 14
links:bioportal-doid 32
links:bioportal-efo 31
links:bioportal-ev 16
links:bioportal-galen 32
links:bioportal-hl7 16
links:bioportal-hp_x1 106
links:bioportal-icd10 12
links:bioportal-icd10cm 11
links:bioportal-icd9cm 22
links:bioportal-icpc2p 42
links:bioportal-lnc 42
links:bioportal-mccl_x1 36
links:bioportal-mdr 73
links:bioportal-medlineplus 33
links:bioportal-mesh-owl 129
links:bioportal-mp 29
links:bioportal-msh 71
links:bioportal-natpro 26
links:bioportal-ncit 100
links:bioportal-ndfrt 43
links:bioportal-nif 50
links:bioportal-nif_dysfunction 10
links:bioportal-omim 81
links:bioportal-ontoorpha 12
links:bioportal-pedterm 12
links:bioportal-rcd 108
links:bioportal-rid 35
links:bioportal-sdo 14
links:bioportal-snomedct 325
links:bioportal-sopharm 39
links:bioportal-uberon 11
links:bioportal-who 31
published-via http://sparql.bioontology.org
sparql-named-graph http://bioportal.bioontology.org/ontologies/CTX
triples 8131