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Nucleic acids research, ISSN 0305-1048, 2017, Volume 45, Issue 1, pp. D865 - d876
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Computational Biology - methods | Phenotype | Algorithms | Biological Ontologies | Humans | Rare Diseases - diagnosis | Genetic Association Studies - methods | Software | Genomics - methods | Rare Diseases - etiology | Translational Medical Research - methods | Precision Medicine - methods | Index Medicus | BASIC BIOLOGICAL SCIENCES | Database Issue
Journal Article
Clinical genetics, ISSN 0009-9163, 06/2010, Volume 77, Issue 6, pp. 525 - 534
differential diagnosis | biomedical ontologies | Phenomizer | diseasome | Human Phenotype Ontology | Differential diagnosis | Diseasome | Biomedical ontologies | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Computational Biology - methods | Gene Expression | Phenotype | Algorithms | Vocabulary, Controlled | Humans | Databases, Genetic | Molecular genetics | Analysis | Online searching | Genetic aspects | Internet/Web search services | Database searching | Gene expression | Genotype & phenotype | Genetics | Databases | Standardization | Index Medicus | Indexing in process
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Genome Biology, ISSN 1474-7596, 01/2012, Volume 13, Issue 1, pp. R5 - R5
Journal Article
PeerJ (San Francisco, CA), ISSN 2167-8359, 2018, Volume 2018, Issue 8, pp. e5298 - e5298
Gene ontology | Cross ontology mapping | Ontological term prediction | Statistical resampling | Human phenotype ontology | Predictive performance analysis | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Proteins | Phenotype | Genetic disorders | Ontology | Causes of | Health aspects | Methods | Phenotypes | Automation | Disease | Laboratories | Genes | Data processing | Consortia | Annotations | Databases | Computer applications | Mutation | Molecular biology | Gene mapping | Bioinformatics | Informatics
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5.
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The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease
American journal of human genetics, ISSN 0002-9297, 11/2008, Volume 83, Issue 5, pp. 610 - 615
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Databases, Genetic | Genetic Diseases, Inborn | Phenotype | Software | Humans | Computational Biology | Molecular genetics | Genetic aspects | Ontology | Genotype & phenotype | Genetic disorders | Index Medicus | Report
Journal Article
Nucleic acids research, ISSN 0305-1048, 2014, Volume 42, Issue 1, pp. D966 - 74
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Phenotype | Animals | Biological Ontologies | Genomics | Humans | Genetic Diseases, Inborn - genetics | Mice | Internet | Genetic Diseases, Inborn - diagnosis | Databases, Factual | Index Medicus | VI. Genomic variation, diseases and drugs
Journal Article
Nucleic acids research, ISSN 0305-1048, 01/2019, Volume 47, Issue D1, pp. D1018 - D1027
Genetics | Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Rare Diseases - genetics | Computational Biology - methods | Genetic Predisposition to Disease - genetics | Knowledge Bases | Biological Ontologies | Humans | Rare Diseases - diagnosis | Databases, Genetic | Whole Genome Sequencing - methods | Congenital Abnormalities - diagnosis | Genetic Variation | Phenotype | Congenital Abnormalities - genetics | Internet | Index Medicus | Database Issue
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Journal of biomedical semantics, ISSN 2041-1480, 10/2013, Volume 4, Issue 1, pp. 20 - 20
Gene ontology | Cellular component ontology | Neuroscience | Ontology integration | Neuroscience information framework | Subcellular anatomy ontology | Annotation | Ontology language | Life Sciences & Biomedicine | Science & Technology | Mathematical & Computational Biology | Genetic research | Medicine, Experimental | Medical research | Neurosciences | Controlled vocabularies | Medical informatics | Phenotypes | Ontology | Knowledge representation | Nervous system | Web Ontology Language-OWL | Anatomy | Biological activity | Proteins | Annotations | Spatial data | Semantics | Life sciences
Journal Article
BMC genomics, ISSN 1471-2164, 01/2018, Volume 19, Issue Suppl 1, pp. 919 - 919
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