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Article

The similarity of inherited diseases (I): clinical similarity within the phenotypic series.

BMC medical genomics - 23 Feb 2021

Gamba Alessio, Salmona Mario, Bazzoni Gianfranco

Abstract excerpt

BACKGROUND: Mutations of different genes often result in clinically similar diseases. Among the datasets of similar diseases, we analyzed the 'phenotypic series' from Online Mendelian Inheritance in Man and examined the similarity of the diseases that belong to the same phenotypic series, because we hypothesize that clinical similarity may unveil shared pathogenic mechanisms. METHODS: Specifically, for each pair...

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Identifiers

PMID: 33622316
DOI: 10.1186/s12920-021-00900-7
PMCID: PMC7903653

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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