standards > terminology artifact > DOI:10.25504/FAIRsharing.rhhrtx


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ready Bone Dysplasia Ontology

Abbreviation: BDO


General Information
The Bone Dysplasia ontology provides a comprehensive and formal representation of the different domain concepts involved in documenting the full complexity of the skeletal dysplasia domain. It captures and combines the genetic features that discriminate the bone dysplasias with the multitude of phenotypic characteristics manifested by patients and required to be taken into account in order to support the diagnosis process.



How to cite this record FAIRsharing.org: BDO; Bone Dysplasia Ontology; DOI: https://doi.org/10.25504/FAIRsharing.rhhrtx; Last edited: July 4, 2019, 2:15 p.m.; Last accessed: Jul 21 2019 12:49 p.m.


Record updated: July 4, 2019, 2:15 p.m. by The FAIRsharing Team.

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Publications

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

Groza T,Hunter J,Zankl A
BMC Bioinformatics 2012

View Paper (PubMed) View Publication


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Grant Number(s)

  • SKELETOME--LP100100156 (Australian Research Council, Australia)