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Article

Linking the clinical vocabulary of diseases to the genes by mapping UMLS to OMIM allelic variant fields.

AMIA ... Annual Symposium proceedings. AMIA Symposium - 11 Oct 2007

Hishiki Teruyoshi, Tamada Issei

Abstract excerpt

To link clinical vocabulary of diseases to gene entries in Online Mendelian Inheritance in Man (OMIM), we comprehensively matched diseases from Unified Medical Language System (UMLS) Metathesaurus to the OMIM text in Allelic Variant fields that describe relations between the mutations or polymorp...

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PMID: 18694076

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18694076-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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