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Article

CSI-OMIM--Clinical Synopsis Search in OMIM.

BMC bioinformatics - 1 Mar 2011

Cohen Raphael, Gefen Avitan, Elhadad Michael, Birk Ohad S

Abstract excerpt

BACKGROUND: The OMIM database is a tool used daily by geneticists. Syndrome pages include a Clinical Synopsis section containing a list of known phenotypes comprising a clinical syndrome. The phenotypes are in free text and different phrases are often used to describe the same phenotype, the differences originating in spelling variations or typing errors, varying sentence structures and terminological...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21362185
DOI: 10.1186/1471-2105-12-65
PMCID: PMC3053257

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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