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The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

There are many thousands of hereditary diseases in humans, each of which has a specific combination of phenotypic features, but computational analysis of phenotypic data has been hampered by lack of adequate computational data structures. Therefore, we have developed a Human Phenotype Ontology (HPO)...

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Autori principali: Robinson, Peter N., Köhler, Sebastian, Bauer, Sebastian, Seelow, Dominik, Horn, Denise, Mundlos, Stefan
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2008
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2668030/
https://ncbi.nlm.nih.gov/pubmed/18950739
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.09.017
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