Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2016 Mar 15;9:23-9.
doi: 10.1016/j.atg.2016.03.005. eCollection 2016 Jun.

Proceedings of a Sickle Cell Disease Ontology Workshop - Towards the First Comprehensive Ontology for Sickle Cell Disease

Free PMC article

Proceedings of a Sickle Cell Disease Ontology Workshop - Towards the First Comprehensive Ontology for Sickle Cell Disease

Nicola Mulder et al. Appl Transl Genom. .
Free PMC article


Sickle cell disease (SCD) is a debilitating single gene disorder caused by a single point mutation that results in physical deformation (i.e. sickling) of erythrocytes at reduced oxygen tensions. Up to 75% of SCD in newborns world-wide occurs in sub-Saharan Africa, where neonatal and childhood mortality from sickle cell related complications is high. While SCD research across the globe is tackling the disease on multiple fronts, advances have yet to significantly impact on the health and quality of life of SCD patients, due to lack of coordination of these disparate efforts. Ensuring data across studies is directly comparable through standardization is a necessary step towards realizing this goal. Such a standardization requires the development and implementation of a disease-specific ontology for SCD that is applicable globally. Ontology development is best achieved by bringing together experts in the domain to contribute their knowledge. The SCD community and H3ABioNet members joined forces at a recent SCD Ontology workshop to develop an ontology covering aspects of SCD under the classes: phenotype, diagnostics, therapeutics, quality of life, disease modifiers and disease stage. The aim of the workshop was for participants to contribute their expertise to development of the structure and contents of the SCD ontology. Here we describe the proceedings of the Sickle Cell Disease Ontology Workshop held in Cape Town South Africa in February 2016 and its outcomes. The objective of the workshop was to bring together experts in SCD from around the world to contribute their expertise to the development of various aspects of the SCD ontology.


Fig. 1
Fig. 1
Overview of the development process.
Fig. 2
Fig. 2
A snapshot of part of the Diagnostics class from the SCD Ontology in WebProtégé before (a) and after (b) the workshop.

Similar articles

See all similar articles

Cited by 5 articles


    1. Ameringer S., Elswick R.K., Smith W. Fatigue in adolescents and young adults with sickle cell disease: biological and behavioral correlates and health-related quality of life. J. Pediatr. Oncol. Nurs. 2014;31:6–17. - PMC - PubMed
    1. Anie K.A. Patient self-assessment of hospital pain, mood and health-related quality of life in adults with sickle cell disease. BMJ Open. 2012;2 - PMC - PubMed
    1. Ballas S.K. Definitions of the phenotypic manifestations of sickle cell disease. Am. J. Hematol. 2010;85:6–13. - PMC - PubMed
    1. Cella D. on behalf of the PROMIS Cooperative Group. Initial item banks and first wave testing of the Patient–Reported Outcomes Measurement Information System (PROMIS) network: 2005–2008. J. Clin. Epidemiol. 2010;63:1179–1194. - PMC - PubMed
    1. Chaturvedi S., DeBaun M.R. Evolution of sickle cell disease from a life-threatening disease of children to a chronic disease of adults: the last 40 years. Am. J. Hematol. 2016;91:5–14. - PubMed