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The Human Phenotype ontology

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

[1] 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.

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GREAT v1.8 Human Phenotype statistics are available here.

References

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