standards > terminology artifact > DOI:10.25504/FAIRsharing.rhhrtx
Update in progress: note to all users. FAIRsharing is always available for you to search and discover databases, standards and data policies. However, for producers of these resources who maintain or wish to add new records, please note that editing is disabled until September while we migrate our data to our new, improved system. Read our blog post or get in touch with us for more details.


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 FAIRsharing.org: BDO; Bone Dysplasia Ontology; DOI: https://doi.org/10.25504/FAIRsharing.rhhrtx; 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.

Show edit history



Support

No support information provided.

Additional Information


Tools

    No tools defined


Schemas

No XSD schemas defined


Access / Retrieve Data

Conditions of Use





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


Related Standards

Reporting Guidelines

No guidelines defined

Terminology Artifacts

Models and Formats

No syntax standards defined

Identifier Schemas

No identifier schema standards defined

Metrics

No metrics standards defined


Related Databases (0)

No Related Databases


Implementing Policies

This record is not implemented by any policy.


Credit

Record Maintainer

  • This record is in need of a maintainer. If you login, you'll be able to claim this record.

Funds

Maintains

Grant Number(s)

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