The Organ-Disease Annotations (ODiseA) Database of Hereditary Diseases and Inflicted Tissues

Idan Hekselman, Lior Kerber, Maya Ziv, Gil Gruber, Esti Yeger-Lotem

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Hereditary diseases tend to manifest clinically in few selected tissues. Knowledge of those tissues is important for better understanding of disease mechanisms, which often remain elusive. However, information on the tissues inflicted by each disease is not easily obtainable. Well-established resources, such as the Online Mendelian Inheritance in Man (OMIM) database and Human Phenotype Ontology (HPO), report on a spectrum of disease manifestations, yet do not highlight the main inflicted tissues. The Organ-Disease Annotations (ODiseA) database contains 4,357 thoroughly-curated annotations for 2,181 hereditary diseases and 45 inflicted tissues. Additionally, ODiseA reports 692 annotations of 635 diseases and the pathogenic tissues where they emerge. ODiseA can be queried by disease, disease gene, or inflicted tissue. Owing to its expansive, high-quality annotations, ODiseA serves as a valuable and unique tool for biomedical and computational researchers studying genotype-phenotype relationships of hereditary diseases. ODiseA is available at

Original languageEnglish
Article number167619
Number of pages7
JournalJournal of Molecular Biology
Issue number11
StatePublished - 15 Jun 2022


  • clinical manifestation
  • data integration
  • hereditary diseases
  • pathogenicity
  • tissue-specificity

ASJC Scopus subject areas

  • Biophysics
  • Structural Biology
  • Molecular Biology


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