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

The American Journal of Human Genetics · 2008 · Vol. 83(5) · pp. 610–615
Peter N. RobinsonSebastian KöhlerSebastian BauerDominik SeelowDenise HornStefan Mundlos
Biomedical Text Mining and OntologiesBioinformatics and Genomic NetworksGenomics and Rare DiseasesPhenotypeHuman diseaseOntologyComputational biologyComputer scienceDiseaseClinical phenotypeBiologyGeneticsGene

MeSH terms

HumansPhenotypeSoftwareComputational BiologyGenetic Diseases, InbornDatabases, Genetic

Funding

  • Berlin-Brandenburger Centrum für Regenerative Therapien
Citations
1,043
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References
Identification of common molecular subsequences
Journal of Molecular Biology · 1981 · 10,021 citations
Gene Ontology: tool for the unification of biology
Nature Genetics · 2000 · 43,975 citations
Walking the Interactome for Prioritization of Candidate Disease Genes
The American Journal of Human Genetics · 2008 · 1,288 citations
The molecular genetics of Marfan syndrome and related disorders
Journal of Medical Genetics · 2006 · 429 citations
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