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

ABSTRACT: 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 objective, systematic method for describing the phenotypic spectra for each variant provides a potential solution to this problem. We curated the clinical phenotypes of 6688 published individuals with 89 pathogenic mitochondrial DNA (mtDNA) mutations, collating 26 348 human phenotype ontology (HPO) terms to establish the MitoPhen database. This enabled a hypothesis-free definition of mtDN

SUBMITTER: Ratnaike TE 

PROVIDER: S-EPMC8464050 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature