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Article

MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases.

Nucleic acids research - 27 Sept 2021

Ratnaike Thiloka E, Greene Daniel, Wei Wei, Sanchis-Juan Alba, Schon Katherine R, van den Ameele Jelle, Raymond Lucy, Horvath Rita, Turro Ernest, Chinnery Patrick F

Abstract excerpt

Diagnosing mitochondrial disorders remains challenging. This is partly because the clinical phenotypes of patients overlap with those of other sporadic and inherited disorders. Although the widespread availability of genetic testing has increased the rate of diagnosis, the combination of phenotypic and genetic heterogeneity still makes it difficult to reach a timely molecular diagnosis with confidence. An...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34428295
DOI: 10.1093/nar/gkab726
PMCID: PMC8464050

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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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