Table 2 Ontologies used in creation of new dictionaries incorporated in DES-Mutation.
From: DES-Mutation: System for Exploring Links of Mutations and Diseases
Ontology | Description |
|---|---|
ATC Ontology | Anatomical Therapeutic Chemical Classification Otology: a representation of the ATC classification provided by WHO used for the classification of drugs. |
DOID Ontology | Human Disease Ontology84: a comprehensive hierarchical representation for human disease. |
EGO Ontology | Epigenome Ontology: a biomedical ontology for integrative epigenome knowledge representation and data analysis. |
HP Ontology | Human Phenotype Ontology: a representation of human phenome annotations with monogenic diseases listed in the Online Mendelian Inheritance in Man (OMIM) database. |
ORDO Ontology | Orphanet Rare Disease ontology: a representation of rare diseases capturing relationships between diseases, genes and other relevant features which will form a useful resource for the computational analysis of rare diseases. |
PDO Ontology | Pathogenic Disease Ontology: a representation of human infectious diseases caused by microbes and the diseases that is related to microbial infection. |
