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Article

The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain.

BMC bioinformatics - 26 Mar 2012

Groza Tudor, Hunter Jane, Zankl Andreas

Abstract excerpt

BACKGROUND: Skeletal dysplasias are a rare and heterogeneous group of genetic disorders affecting skeletal development. Patients with skeletal dysplasias suffer from many complex medical issues including degenerative joint disease and neurological complications. Because the data and expertise associated with this field is both sparse and disparate, significant benefits will potentially accrue from the...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 22449239
DOI: 10.1186/1471-2105-13-50
PMCID: PMC3338382

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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