SCDO
SCDO provides a standardized, integrative ontology of sickle cell disease and related hemoglobinopathies to represent molecular and clinical phenotypes, environmental and psychosocial factors, and therapeutic options for improved data interoperability and analysis.
Key Features:
- Standardized Vocabulary: Provides a controlled vocabulary developed by experts in sickle cell disease and ontology design for unambiguous representation of SCD-related terminology.
- Comprehensive Knowledge Representation: Encompasses molecular and clinical phenotypes, environmental influences, psychosocial aspects, and therapeutic options and centralizes the concept of "hemoglobinopathy" to include related conditions such as thalassemias.
- Hierarchical Structure: Implements a canonical, hierarchical representation of SCD knowledge to organize relationships among concepts.
- Interoperability and Integration: Links terms to external ontologies and terminologies including DO (Disease Ontology), PhenX MeSH, ICD (International Classification of Diseases), NCI’s thesaurus, SNOMED, and OMIM to enable data integration.
Scientific Applications:
- Enhanced Data Sharing: Supports interoperability among SCD-related databases to enable efficient data exchange and collaboration.
- Facilitation of Meta-Analyses: Provides a standardized terminology framework to harmonize datasets for meta-analyses across studies.
- Clinical Informatics Development: Supports the development and curation of databases and clinical informatics resources for SCD patient data management.
Methodology:
Community-driven development through collaboration between H3ABioNet and SPAN with expert curation in ontology design.
Topics
Details
- Programming Languages:
- Python
- Added:
- 1/14/2020
- Last Updated:
- 1/16/2021
Operations
Publications
Adekile A, Anie KA, Hamda CB, Brown B, Bukini D, Campbell A, Chaouch M, Chimusa E, Chunda-Liyoka C, Dennis-Antwi J, Derebail VK, Flor-Park M, Geard A, Ghedira K, Haendel M, Hanchard NA, Hotchkiss J, Jonas M, Ibrahim M, Ingram C, Inusa B, Jimoh AO, Jupp S, Kamga K, Kashim ZA, Knight-Madden J, Landouré G, Lopez-Sall P, Makani J, Malasa L, Masekoameng T, Mazandu G, Mnika K, Mulder N, Munung NS, Munube D, Mwita L, Nembaware V, Nnodu O, Ofori-Acquah S, Ohene-Frempong K, Osei-Akoto A, Paintsil V, Panji S, Rahimy MC, Royal C, Sangeda RZ, Tayo B, Tiouiri I, Tluway F, Treadwell M, Tshilolo L, Vasilevsky N, Waiswa KM, Wonkam A. The Sickle Cell Disease Ontology: enabling universal sickle cell-based knowledge representation. Database. 2019;2019. doi:10.1093/database/baz118. PMID:31769834. PMCID:PMC6878945.