Objective: To develop a web-based tool to collect phenotypes of heterditary movement disorders.

Background: Deep phenotyping, the precise and comprehensive analysis of phenotypic abnormalities, is required for precision medicine. Phenotypes of hereditary movement disorders have been expanded, and overlapping of phenotypes among different hereditary movement disorders is increasing. Big data of phenotypes by deep phenotyping is required to explore connections between phenotypes (or diseases) and genetic variations. The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities encountered in human disease. Each term in the HPO describes a phenotypic abnormality.

Method: To systematically collect phenotypes of hereditary movement disorders from medical literature by multiple users, we developed a web-based phenotyping tool.

Results: Using manual curation, data of phenotypes from individual literatures are extracted and stored in our tool according to a standardized format using HPO terms. Collected data include number of cases, mode of inheritance, ethnicity, and clinical manifestations with frequency information. Pre-defined clinical manifestations of a given hereditary movement disorders which is derived from Online Mendelian Inheritance in Man (OMIM) database were listed up to be used as a template. Besides, users can add a new symptom in HPO term onto the database if their symptom is not listed in the pre-listed symptoms.

Conclusion: By collecting phenotypes from literatures, we expect our tool to contribute to constructing phenome database for hereditary movement disorders. Congruency of collected phenotypes from the same literature by different curators will be explored.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/development-of-a-web-based-tool-for-systematic-collection-of-phenotypes-of-hereditary-movement-disorders-from-medical-literature/