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PhenoDis: a comprehensive database for phenotypic characterization of rare cardiac diseases.

Author
Abstract
:

Thoroughly annotated data resources are a key requirement in phenotype dependent analysis and diagnosis of diseases in the area of precision medicine. Recent work has shown that curation and systematic annotation of human phenome data can significantly improve the quality and selectivity for the interpretation of inherited diseases. We have therefore developed PhenoDis, a comprehensive, manually annotated database providing symptomatic, genetic and imprinting information about rare cardiac diseases.

Year of Publication
:
2018
Journal
:
Orphanet journal of rare diseases
Volume
:
13
Issue
:
1
Number of Pages
:
22
Date Published
:
2018
DOI
:
10.1186/s13023-018-0765-y
Short Title
:
Orphanet J Rare Dis
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