The human phenotype ontology
WebThe Human Phenotype Ontology is developed by Peter Robinson's group. Additional terms or revisions may be requested through their issue tracker at GitHub. Contributing Projects: … WebJul 2, 2015 · The Human Phenotype Ontology (HPO) provides a structured, comprehensive, and well-defined set of over 11,000 classes (terms) that describe phenotypic abnormalities seen in human disease. 1,2 The HPO has been used for developing algorithms and computational tools for clinical differential diagnostics, 3–5 for the prioritization of …
The human phenotype ontology
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WebDec 2, 2024 · Recent major extensions of the Human Phenotype Ontology for neurology, nephrology, immunology, pulmonology, newborn screening, and other areas are presented and new efforts to harmonize computational definitions of phenotypic abnormalities across the HPO and multiple phenotype ontologies used for animal models of disease are … WebHuman Phenotype Ontology, a standardized vocabulary of phenotypic abnormalities encountered in human disease. With unmatched depth it enables clinicians to record and …
WebTherefore, we have developed a Human Phenotype Ontology (HPO) with over 8000 terms representing individual phenotypic anomalies and have annotated all clinical entries in Online Mendelian Inheritance in Man with the terms of the HPO. We show that the HPO is able to capture phenotypic similarities between diseases in a useful and highly ... WebNov 17, 2008 · The Human Phenotype Ontology The HPO term Bilateral congenital hip dislocation and all paths to the root that emanate from this term are shown. Some of the …
WebInfo - The Phenomizer is developed and maintained by Sebastian Köhler (see group website for more info). - The Phenomizer_Orphanet uses the latest Orphanet date and a different algorithm for ranking the differential diagnoses. Please cite the following papers when you use this tool/HPO in your publications. Köhler et al., Clinical diagnostics in human … http://human-phenotype-ontology.github.io/
WebThe HPO is copyrighted to protect the integrity of the vocabularies, which means that changes to the HPO vocabularies need to be done by HPO developers. However, anyone can download the HPO and use the ontologies or other HPO files under three conditions: That the Human Phenotype Ontology Consortium is acknowledged and cited properly.
WebThe Human Phenotype Ontology (HPO) is a standardized set of phenotypic terms that are organized in a hierarchical fashion. It is a widely used resource for capturing human disease phenotypes for computational analysis to support differential diagnostics. The HPO is frequently used to create a set of terms that accurately describe the observed ... burlington coat factory toysWebThe Human Phenotype Ontology is developed by Peter Robinson's group. Additional terms or revisions may be requested through their issue tracker at GitHub. Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene … burlington coat factory towelsWebJan 27, 2024 · creator: Human Phenotype Ontology Consortium, Monarch Initiative, Peter Robinson, Sebastian Köhler; description: The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities and clinical features encountered in human disease. subject: Phenotypic abnormalities encountered in human disease; title: … burlington coat factory trussville alWebMar 31, 2024 · The interpretation of genomic variants following whole exome sequencing (WES) can be aided using human phenotype ontology (HPO) terms to standardize clinical features and predict causative genes ... halo tech betaWebApr 6, 2024 · The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities encountered in human disease. Each term in the HPO describes a phenotypic abnormality, such as Atrial septal defect. The HPO is currently being … Contact US - The Human Phenotype Ontology - The Jackson Laboratory Download Ontology - The Human Phenotype Ontology - The Jackson … Phenomizer - The Human Phenotype Ontology - The Jackson Laboratory HPO Workbench - The Human Phenotype Ontology - The Jackson Laboratory License - The Human Phenotype Ontology - The Jackson Laboratory Other HPO Browsers - The Human Phenotype Ontology - The Jackson … View All News - The Human Phenotype Ontology - The Jackson Laboratory Our group has contributed to patient phenotyping by developing the Human … burlington coat factory t shirtsWebJul 1, 2015 · The Human Phenotype Ontology (HPO) is widely used in the rare disease community for differential diagnostics, phenotype-driven analysis of next-generation sequence-variation data, and translational research, but a comparable resource has not been available for common disease. Here, we have developed a concept-recognition procedure … burlington coat factory toms river nj hoursWebJan 4, 2024 · Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the … halo teaser