standards > terminology artifact > DOI:10.25504/FAIRsharing.rhhrtx
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uncertain 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 BDO; Bone Dysplasia Ontology; DOI:; Last edited: Aug. 16, 2019, 2:33 p.m.; Last accessed: Jul 29 2021 10:34 a.m.

Record updated: Aug. 15, 2019, 4:27 p.m. by The FAIRsharing Team.

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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)