FAIRsharing record for: Bone Dysplasia Ontology
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https://fairsharing.org/10.25504/FAIRsharing.rhhrtx
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资源简介：
This FAIRsharing record describes: 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.
提供机构：
FAIRsharing
创建时间：
2018-02-22
