Disease core ontology applied to Rare Diseases
Names
More detailed information about this field from each metasource.
Disease core ontology applied to Rare Diseases
metasource: Fairsharing.org
version: FAIRsharing.org: HRDO; Disease core ontology applied to Rare Diseases; DOI: https://doi.org/10.25504/FAIRsharing.1wm8em; Last edited: Jan. 8, 2019, 1:36 p.m.; Last accessed: Jan 03 2022 7:11 p.m.
metasource: Biontology / Bioportal
version: V2 extracted_at: 2022-11-04T11:10:15.597147, http://bioportal.bioontology.org/ontologies/HRDO
HRDO
metasource: Fairsharing.org
version: FAIRsharing.org: HRDO; Disease core ontology applied to Rare Diseases; DOI: https://doi.org/10.25504/FAIRsharing.1wm8em; Last edited: Jan. 8, 2019, 1:36 p.m.; Last accessed: Jan 03 2022 7:11 p.m.
metasource: Biontology / Bioportal
version: V2 extracted_at: 2022-11-04T11:10:15.597147, http://bioportal.bioontology.org/ontologies/HRDO
Names
More detailed information about this field from each metasource.
Disease core ontology applied to Rare Diseases
metasource: Fairsharing.orgversion: FAIRsharing.org: HRDO; Disease core ontology applied to Rare Diseases; DOI: https://doi.org/10.25504/FAIRsharing.1wm8em; Last edited: Jan. 8, 2019, 1:36 p.m.; Last accessed: Jan 03 2022 7:11 p.m.
metasource: Biontology / Bioportal
version: V2 extracted_at: 2022-11-04T11:10:15.597147, http://bioportal.bioontology.org/ontologies/HRDO
HRDO
metasource: Fairsharing.orgversion: FAIRsharing.org: HRDO; Disease core ontology applied to Rare Diseases; DOI: https://doi.org/10.25504/FAIRsharing.1wm8em; Last edited: Jan. 8, 2019, 1:36 p.m.; Last accessed: Jan 03 2022 7:11 p.m.
metasource: Biontology / Bioportal
version: V2 extracted_at: 2022-11-04T11:10:15.597147, http://bioportal.bioontology.org/ontologies/HRDO
Names
More detailed information about this field from each metasource.
Disease core ontology applied to Rare Diseases
metasource: Fairsharing.orgversion: FAIRsharing.org: HRDO; Disease core ontology applied to Rare Diseases; DOI: https://doi.org/10.25504/FAIRsharing.1wm8em; Last edited: Jan. 8, 2019, 1:36 p.m.; Last accessed: Jan 03 2022 7:11 p.m.
metasource: Biontology / Bioportal
version: V2 extracted_at: 2022-11-04T11:10:15.597147, http://bioportal.bioontology.org/ontologies/HRDO
HRDO
metasource: Fairsharing.orgversion: FAIRsharing.org: HRDO; Disease core ontology applied to Rare Diseases; DOI: https://doi.org/10.25504/FAIRsharing.1wm8em; Last edited: Jan. 8, 2019, 1:36 p.m.; Last accessed: Jan 03 2022 7:11 p.m.
metasource: Biontology / Bioportal
version: V2 extracted_at: 2022-11-04T11:10:15.597147, http://bioportal.bioontology.org/ontologies/HRDO
This resource was designed during a PhD in medical informatics (funded by INSERM, 2010-2012). Its components are (i) a core ontology consistent with a metamodel (disorders and groups of disorders, genes, clinical signs and their relations) and (ii) an instantiation of this metamodel with Orphanet Data (available on http://orphadata.org). </ br> Research experiments demonstrated (i) efficient classifications generation based on SPARQL Construct, (ii) perspectives in semantic audit of a knowledge base, (iii) semantic comparison with OMIM (www.omim.org) using proximity measurements and (iv) opened perspectives in knowledge sharing (LORD, http://lord.bndmr.fr). Current production services of Orphanet developed ORDO, released in 2014, an ontology synchronized with their production database. This ontology is now available on Bioportal.
Description
More detailed information about this field from each metasource.
This resource was designed during a PhD in medical informatics (funded by INSERM, 2010-2012). Its components are (i) a core ontology consistent with a metamodel (disorders and groups of disorders, genes, clinical signs and their relations) and (ii) an instantiation of this metamodel with Orphanet Data (available on http://orphadata.org). </ br> Research experiments demonstrated (i) efficient classifications generation based on SPARQL Construct, (ii) perspectives in semantic audit of a knowledge base, (iii) semantic comparison with OMIM (www.omim.org) using proximity measurements and (iv) opened perspectives in knowledge sharing (LORD, http://lord.bndmr.fr). Current production services of Orphanet developed ORDO, released in 2014, an ontology synchronized with their production database. This ontology is now available on Bioportal.
metasource: Fairsharing.orgversion: FAIRsharing.org: HRDO; Disease core ontology applied to Rare Diseases; DOI: https://doi.org/10.25504/FAIRsharing.1wm8em; Last edited: Jan. 8, 2019, 1:36 p.m.; Last accessed: Jan 03 2022 7:11 p.m.
This resource was designed during a PhD in medical informatics (funded by INSERM, 2010-2012). Its components are (i) a core ontology consistent with a metamodel (disorders and groups of disorders, genes, clinical signs and their relations) and (ii) an instantiation of this metamodel with Orphanet Data (available on http://orphadata.org). </ br> Research experiments demonstrated (i) efficient classifications generation based on SPARQL Construct, (ii) perspectives in semantic audit of a knowledge base, (iii) semantic comparison with OMIM (www.omim.org) using proximity measurements and (iv) opened perspectives in knowledge sharing (LORD, http://lord.bndmr.fr). Current production services of Orphanet developed ORDO, released in 2014, an ontology synchronized with their production database. This ontology is now available on Bioportal.
metasource: Biontology / Bioportalversion: V2 extracted_at: 2022-11-04T11:10:15.597147, http://bioportal.bioontology.org/ontologies/HRDO
Webpage:
http://bioportal.bioontology.org/ontologies/HRDOWebpage
More detailed information about this field from each metasource.
http://bioportal.bioontology.org/ontologies/HRDO
metasource: Fairsharing.orgversion: FAIRsharing.org: HRDO; Disease core ontology applied to Rare Diseases; DOI: https://doi.org/10.25504/FAIRsharing.1wm8em; Last edited: Jan. 8, 2019, 1:36 p.m.; Last accessed: Jan 03 2022 7:11 p.m.
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