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URL: http://human-phenotype-ontology.github.io/
Proper Citation: Disease Phenotype Ontology (RRID:SCR_008687)
Description: The Disease Ontology group has developed a set of standard representations of phenotypes associated with diseases useful in bioinformatics applications. These are formalized into an ontological structure and are encoded in OWL. Neurodegenerative diseases have a wide and complex range of biological and clinical symptoms. While neurodegenerative diseases share many pathological features in common, they also contain unique signatures. Animal models of these disorders are key to translational research. However, animal models typically replicate only a subset of disease features or display features that are only indirectly related to a given disorder, whose relationship to the human condition may be across several diseases. Matching animal models to human diseases is therefore a significant informatics challenge. We have been working to develop ontologies that capture essential features of neurodegenerative diseases and associated animal models in a way that allows more flexible matching of animal models to human disorders and in a way that makes explicit commonalities and differences among animal models and human neurodegenerative disease. Creating ontologies for diseases and disorders is a very challenging task (Gupta et al., 2003) because of the complexity of the disorders and because of the limitations of current ontology formalisms. In order to simplify the approach and make it practical for use in information systems, we have focused on formal descriptions of phenotypes associated with diseases and animal models rather than on a formal model of the disease process itself. We employ the modular ontologies developed as part of the Neuroscience Information Framework (NIF: http://nif.nih.gov) and the Phenotype and Trait Ontology (PATO), an ontology of qualities associated with biological phenotypes, to create a flexible template for creating phenotypic statements at the class and instance levels. We show how these phenotypes can be used to look for commonalities across multiple neurodegenerative conditions and animal models.
Synonyms: DPO
Resource Type: data or information resource, controlled vocabulary, ontology
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