MitoPhen database

MitoPhen database provides a phenotype-ontology-based reference of clinical phenotypes associated with mitochondrial DNA (mtDNA) mutations to support diagnosis and research of mitochondrial disorders.

Key Features:

• Human Phenotype Ontology (HPO) integration: Uses the Human Phenotype Ontology to systematically encode clinical phenotypes associated with mitochondrial DNA (mtDNA) mutations.
• Comprehensive data curation: Contains curated clinical phenotypes from 6,688 individuals with 89 pathogenic mtDNA mutations, comprising over 26,348 HPO terms.
• Hypothesis-free syndrome definition: Applies a hypothesis-free approach to define clinical syndromes associated with mtDNA variants and to analyse heteroplasmy–phenotype relationships.
• Diagnostic accuracy via phenotype similarity: Distinguishes mitochondrial from non-mitochondrial rare diseases using HPO-based phenotype similarity scores with a false discovery rate <10% at 80% sensitivity.

Scientific Applications:

• Clinical diagnosis: Compare patient HPO profiles to the reference dataset to support molecular diagnosis of mitochondrial disorders.
• Research and discovery: Explore heteroplasmy–phenotype relationships and identify novel phenotypic associations with rare mtDNA mutations.
• Reference enrichment and predictive assessment: Provide a growing reference that improves predictive assessment of rare mtDNA variants as additional patients are incorporated.

Methodology:

Integration of the Human Phenotype Ontology, curation of phenotype data from 6,688 individuals with 89 pathogenic mtDNA mutations (over 26,348 HPO terms), hypothesis-free syndrome definition, and calculation of HPO-based phenotype similarity scores.