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The Human Phenotype ontology

Footnote Macro

Robinson, P.N. and Mundlos, S. The Human Phenotype Ontology, Clin. Genet. 2010 77:525-534

contains data about human genotype - phenotype associations initially developed using information from Online Mendelian Inheritance in Man (OMIM) and now incorporating additional data from the medical literature.

Statistics

The human hg19 ontology contains 6,024 phenotypes, 1,797 genes, and 102,707 total term <--> gene associations.

The human hg18 ontology contains 6,024 phenotypes, 1,797 genes, and 102,687 total term <--> gene associations.

The mouse mm9 ontology contains 5,983 phenotypes, 1,752 genes, and 101,693 total term <--> gene associations.

Download

All data for this ontology was downloaded on January 31, 2011.

Statistics can not be found in the footers of each table in the GREAT web output.

Download

All ontology data was downloaded and built between Oct 14, 2011 and Feb 18, 2012.

GREAT v1.8

GREAT v1.8 Human Phenotype statistics are available here.

References

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