OWL representation of the Phenotype Specification Ontology Version 1
LHA ID: 8ATHRG17Q3-6
Filename:
MDPI_Example_PheSO.owl
Format: XML document
Size: 34.5 KB
Data file type: Not specified
Human Diseases: Obesity, Hypertension
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Franz Matthies, Ralph Schäfermeier
Submitter
Views: 3936 Downloads: 222
Created: 23rd Feb 2022 at 12:59
Last used: 6th Jan 2026 at 18:34
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Version 1 Created 23rd Feb 2022 at 12:59 by Christoph Beger
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The Onto-Med Research Group conducts basic research in formal ontology, designs formal tools for constructing and managing ontologies and develops top level ontologies as well as domain and core ontologies for medicine, bio-medicine and biology, but also for other fields. The Onto-Med group uses an interdisciplinary approach, combining methods from logic, computer science, philosophy and cognitive linguistics. The Onto-Med group considers Formal Ontology as an evolving science which is concerned ...
Programme: This Project is not associated with a Programme
Public web page: http://www.onto-med.de
Start date: 1st Jan 2002
The aim of this investigation is to develop a methodology to model and express phenotype classes. These models can be used to generate queries to search for individuals (patients or study participants) with specific phenotypes.
Submitter: Christoph Beger
Studies: Ontology-based Phenotype Knowledge Model
Resources: Example Phenotype Specification Ontology for Inclusion Criteria Hyperten...
In this study we used the Core Ontology of Phenotypes as general phenotypic model to represent phenotype knowledge. The phenotypes are modelled in so called Phenotype Specification Ontologies.
Submitter: Christoph Beger
Investigation: Phenotype Knowledge Model
Resources: Example Phenotype Specification Ontology for Inclusion Criteria Hyperten...
Study type: Not specified
Example study for people with hypertension or obesity as inclusion criteria. This ontology uses the Core Ontology of Phenotypes as a general phenotypic model.
Submitter: Christoph Beger
Biological problem addressed: Model Analysis Type
Investigation: Phenotype Knowledge Model
Projects: LHA - Leipzig Health Atlas, Onto-Med Research Group, SMITH - Smart Medical Information Technology for Healthcare, Task Force COVID-19 Leipzig, NFDI4Health, LIFE Child, LIFE - Leipzig Research Center for Civilization Diseases, Project Test Demonstrator
Institutions: Institute for Medical Informatics, Statistics and Epidemiology (IMISE), Universitätsklinikum Leipzig, AöR, invalid
https://orcid.org/0000-0002-1166-0368
Profile image source: Swen Reichhold
Projects: Onto-Med Research Group
Institutions: Institute for Medical Informatics, Statistics and Epidemiology (IMISE)
Projects: LIFE - Leipzig Research Center for Civilization Diseases, LHA - Leipzig Health Atlas, LEUKO-EXPERT
Institutions: Interdisciplinary Center for Bioinformatics (IZBI), Faculty of Applied Computer and Biological Sciences, University of Applied Sciences Mittweida, Medical Data Science Department, Leipzig University
https://orcid.org/0000-0001-7117-4268
Taxonomy URI: http://purl.obolibrary.org/obo/DOID_10763
Synonyms: HTN, vascular hypertensive disorder, hyperpiesia, hypertensive disease, High blood pressure (& [essential hypertension])
Definitions: An artery disease characterized by chronic elevated blood pressure in the arteries.
Taxonomy URI: http://purl.obolibrary.org/obo/DOID_9970
Definitions: OMIM mapping confirmed by DO. [SN].
