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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 ass...

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Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22449239-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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