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Get diagnosis. - 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.
The Phenomizer is a software that aims to help clinicians to identify the correct differential diagnosis in the field of human genetics. The user enters the signs/symptoms of the patient encoded as terms from the Human Phenotype Ontology.
7 de jun. de 2024 · Human Phenotype Ontology, a standardized vocabulary of phenotypic abnormalities encountered in human disease. With unmatched depth it enables clinicians to record and analyse data with extremely accurate computer interpretable ontology terms. Developed by The Monarch Initiative.
The Phenomizer is a web-based application that provides clues to the differential diangosis of an individual with suspected rare disease based on the observed phenotypic abnormalities. Köhler S et al (2009) Clinical diagnostics in human genetics with semantic similarity searches in ontologies.
Un grupo de investigación desarrollado por el Instituto Max Planck de Alemania ha desarrollado ‘Phenomizer’, una nueva App disponible en Google Play de Android que podría simplificar el diagnóstico de enfermedades hereditarias.
9 de oct. de 2009 · The Phenomizer provides a list of HPO terms that would best distinguish between selected differential diagnoses. This can suggest possibilities for further examinations that would help to narrow down the differential diagnosis.
A recent paper in the American Journal of Human Genetics describes Phenomizer, a freely available online tool for those purposes. It is based on the Human Phenotype Ontology and allows an automatic correlation between phenotypic abnormalities and hereditary disorders.
