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Phenomizer |
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. The software then ranks all diseases from OMIM, Orphanet, and DECIPHER by a score that reflects how well the phenotypic profiles of the patient and the disease match to each other. Further details can be found in the publication.
The software is available here.
There is also a beta-version of Phenomizer-Orphanet available. Test it and give feedback here: http://compbio.charite.de/phenomizer_orphanet.
Phenomizer has been published here:
Clinical diagnostics in human genetics with semantic similarity searches in ontologies.
Köhler S, Schulz MH, Krawitz P, Bauer S, Dölken S, Ott CE, Mundlos C, Horn D, Mundlos S, Robinson PN.
Am J Hum Genet. 2009 Oct;85(4):457-64. doi: 10.1016/j.ajhg.2009.09.003.