WebApr 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 … WebHuman Phenotype Ontology. Atrial septal defect. Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Synonyms: ASD, An opening in the wall separating the top two chambers of the heart, Atria septal defect, Atrial septum defect ...
The Human Phenotype Ontology - The Jackson Laboratory
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: … WebNov 22, 2024 · The Human Phenotype Ontology (HPO) provides the most comprehensive resource for computational deep phenotyping and has become the de facto standard for deep phenotyping in the field of rare disease—whether for computable disease definitions, description of clinical abnormalities or to aid genomic diagnostics. bunny adoption seattle
The Human Phenotype Ontology in 2024 - OUP Academic
WebJan 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: … WebMay 5, 2024 · The Human Phenotype Ontology (HPO) is a freely available map of human symptoms used widely by medical and research teams around the world. Its most important function is to select and interpret genetic tests. Identifying a genetic cause in epilepsy can help doctors to select which treatments to recommend and which to avoid. 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 … hallelujah pentatonix guitar chords