Sickle Cell Disease Ontology

An ontology for the standardization of terminology and integration of knowledge about Sickle Cell Disease.

Ontology information

Ontology ID: scdo
Version: 2021-04-15
Number of terms: 2071
Last loaded: Fri May 07 07:57:14 BST 2021

dc:accrualMethod

Manually, based on terms in existing ontologies and in collaboration with sickle cell disease (SCD) experts where necessary.

dc:language

English

dc:coverage

The field of sickle cell disease (SCD) research and care.

dc:conformsTo

OBO Foundry standards.

dc:LicenseDocument

gpl-3.0.en.html

dc:accrualPeriodicity

As necessary. Not currently following a fixed frequency.

dc:isReferencedBy

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549008/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947307/

5626537

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7411326/

dc:available

First draft was made available in BioPortal in May 2017

dc:issued

April 2021

dc:accrualPolicy

Terms/classes are added as they are identified as necessary by the sickle cell disease (SCD) community.

dc:abstract

Sickle cell disease (SCD) is one of the most common monogenic diseases in humans with multiple phenotypic expressions that can manifest as both acute and chronic complications. Although described more than a century ago, challenges in comprehensive disease management and collaborative research on this disease are compounded by the complex molecular and clinical phenotypes of SCD, environmental and psychosocial factors, limited therapeutic options and ambiguous terminology. This ambiguous terminology has hampered the integration and interoperability of existing SCD knowledge, and SCD research translation. The SCD Ontology (SCDO), which is a community-driven integrative and universal knowledge representation system for SCD, overcomes this issue by providing a controlled vocabulary developed by a group of experts in both SCD and ontology design. SCDO is the first and most comprehensive standardized human- and machine-readable resource that unambiguously represents terminology and concepts about SCD for researchers, patients and clinicians. It is built around the central concept ‘hemoglobinopathy’, allowing inclusion of non-SCD haemoglobinopathies, such as thalassaemias, which may interfere with or influence SCD phenotypic manifestations. This collaboratively developed ontology constitutes a comprehensive knowledge management system and standardized terminology of various SCD-related factors. The SCDO will promote interoperability of different research datasets, facilitate seamless data sharing and collaborations, including meta-analyses within the SCD community, and support the development and curation of data-basing and clinical informatics in SCD.

dc:audience

Researchers in Hemoglobinopathy and/or sickle cell disease (SCD), SCD patients and clinicians.

dc:accessRights

Anyone can access the resource.

dc:license

GPL-3.0