Bone Dysplasia Ontology
Names
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Bone Dysplasia Ontology
metasource: Fairsharing.org
version: 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: Jan 03 2022 7:12 p.m.
metasource: Biontology / Bioportal
version: 1.5 extracted_at: 2022-11-04T11:10:15.597147, http://bioportal.bioontology.org/ontologies/BDO
BDO
metasource: Fairsharing.org
version: 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: Jan 03 2022 7:12 p.m.
metasource: Biontology / Bioportal
version: 1.5 extracted_at: 2022-11-04T11:10:15.597147, http://bioportal.bioontology.org/ontologies/BDO
Names
More detailed information about this field from each metasource.
Bone Dysplasia Ontology
metasource: Fairsharing.orgversion: 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: Jan 03 2022 7:12 p.m.
metasource: Biontology / Bioportal
version: 1.5 extracted_at: 2022-11-04T11:10:15.597147, http://bioportal.bioontology.org/ontologies/BDO
BDO
metasource: Fairsharing.orgversion: 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: Jan 03 2022 7:12 p.m.
metasource: Biontology / Bioportal
version: 1.5 extracted_at: 2022-11-04T11:10:15.597147, http://bioportal.bioontology.org/ontologies/BDO
Names
More detailed information about this field from each metasource.
Bone Dysplasia Ontology
metasource: Fairsharing.orgversion: 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: Jan 03 2022 7:12 p.m.
metasource: Biontology / Bioportal
version: 1.5 extracted_at: 2022-11-04T11:10:15.597147, http://bioportal.bioontology.org/ontologies/BDO
BDO
metasource: Fairsharing.orgversion: 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: Jan 03 2022 7:12 p.m.
metasource: Biontology / Bioportal
version: 1.5 extracted_at: 2022-11-04T11:10:15.597147, http://bioportal.bioontology.org/ontologies/BDO
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.
Description
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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.
metasource: Fairsharing.orgversion: 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: Jan 03 2022 7:12 p.m.
metasource: Biontology / Bioportal
version: 1.5 extracted_at: 2022-11-04T11:10:15.597147, http://bioportal.bioontology.org/ontologies/BDO
Webpage:
http://bioportal.bioontology.org/ontologies/1613Webpage
More detailed information about this field from each metasource.
http://bioportal.bioontology.org/ontologies/1613
metasource: Fairsharing.orgversion: 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: Jan 03 2022 7:12 p.m.
Publications:
Publications
More detailed information about this field from each metasource.
The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain
PMID: 22449239
metasource: Fairsharing.org
version: 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: Jan 03 2022 7:12 p.m.
Publications
More detailed information about this field from each metasource.
The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain
PMID: 22449239
metasource: Fairsharing.org
version: 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: Jan 03 2022 7:12 p.m.
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The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain
PubMed citations: 10.
10 articles citing: The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain
The radiologic diagnosis of skeletal dysplasias: past, present and future. PMID:33135135
The Human Phenotype Ontology in 2017. PMID:27899602
Capturing domain knowledge from multiple sources: the rare bone disorders use case. PMID:25926964
Automatic concept recognition using the human phenotype ontology reference and test suite corpora. PMID:25725061
Guidelines for managing data and processes in bone and cartilage tissue engineering. PMID:24564199
Semantic interestingness measures for discovering association rules in the skeletal dysplasia domain. PMID:24499729
Decomposing phenotype descriptions for the human skeletal phenome. PMID:23440304
Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project. PMID:23401191
Supervised segmentation of phenotype descriptions for the human skeletal phenome using hybrid methods. PMID:23061930
The Units Ontology: a tool for integrating units of measurement in science. PMID:23060432
Tags:
Tags
More detailed information about this field from each metasource.
bone
metasource: Fairsharing.org
version: 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: Jan 03 2022 7:12 p.m.
bone disease
metasource: Fairsharing.org
version: 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: Jan 03 2022 7:12 p.m.
genotype
metasource: Fairsharing.org
version: 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: Jan 03 2022 7:12 p.m.
mutation analysis
metasource: Fairsharing.org
version: 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: Jan 03 2022 7:12 p.m.
phenotype
metasource: Fairsharing.org
version: 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: Jan 03 2022 7:12 p.m.
Tags
More detailed information about this field from each metasource.
bone
metasource: Fairsharing.orgversion: 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: Jan 03 2022 7:12 p.m.
bone disease
metasource: Fairsharing.orgversion: 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: Jan 03 2022 7:12 p.m.
genotype
metasource: Fairsharing.orgversion: 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: Jan 03 2022 7:12 p.m.
mutation analysis
metasource: Fairsharing.orgversion: 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: Jan 03 2022 7:12 p.m.
phenotype
metasource: Fairsharing.orgversion: 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: Jan 03 2022 7:12 p.m.
bone bone disease genotype mutation analysis phenotype
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