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Article

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

Orphanet journal of rare diseases - 25 Jan 2018

Adler Angela, Kirchmeier Pia, Reinhard Julian, Brauner Barbara, Dunger Irmtraud, Fobo Gisela, Frishman Goar, Montrone Corinna, Mewes H-Werner, Arnold Matthias, Ruepp Andreas

Abstract excerpt

BACKGROUND: 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...

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Source

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Identifiers

PMID: 29370821
DOI: 10.1186/s13023-018-0765-y
PMCID: PMC5785853

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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