Skip to end of metadata
Go to start of metadata


The Disease Ontology1 contains data associating genes with human diseases, using established disease codes and terminologies.


The human hg19 ontology contains 1,810 phenotypes, 4,358 genes, and 122,192 total term <--> gene associations.

The human hg18 ontology contains 1,810 phenotypes, 4,365 genes, and 122,156 total term <--> gene associations.

The mouse mm9 ontology contains 1,791 phenotypes, 4,079 genes, and 116,587 total term <--> gene associations.


All data for this ontology was downloaded on January 28, 2011.


Ref Notes
1 Osborne, J.D. et al. Annotating the human genome with Disease Ontology, BMC Genomics 2009 10:S1-S6
  • No labels