Congenital Heart Defects Ontology
Countries that developed this resource Belgium
Created in 2013
How to cite this record FAIRsharing.org: CHD; Congenital Heart Defects Ontology; DOI: https://doi.org/10.25504/FAIRsharing.b82qvn; Last edited: Feb. 28, 2020, 4:25 p.m.; Last accessed: May 17 2021 10:53 a.m.
Record added: Oct. 24, 2017, 9:41 a.m.
Record updated: Nov. 1, 2018, 5:48 p.m. by The FAIRsharing Team.
Edits to 'https://fairsharing.org/FAIRsharing.b82qvn' by 'The FAIRsharing Team' at 17:48, 01 Nov 2018 (approved): 'description' has been modified: Before: "Congenital Heart Defects Ontology" is a standard, specialising in the fields described under "scope and data types", below. Until this entry is claimed, more information on this project can be found at http://homes.esat.kuleuven.be/~bioiuser/chdwiki. This text was generated automatically. If you work on the project responsible for "Congenital Heart Defects Ontology" then please consider helping us by claiming this record and updating it appropriately. After: Congenital Heart Defects Ontology (CHD) is a standard that represents the ontology of CHD. 'countries' has been modified: Before: After: Belgium Added: Belgium Removed: 'miriam_id' has been modified: Before: None After: 'domains' has been modified: Before: After: Annotation Biomedical Science Heart Life Science Ontology and terminology Added: Annotation Biomedical Science Heart Life Science Ontology and terminology Removed: 'taxonomies' has been modified: Before: All After: Homo sapiens Added: Homo sapiens Removed: All 'homepage' has been modified: Before: http://homes.esat.kuleuven.be/~bioiuser/chdwiki After: https://bioportal.bioontology.org/ontologies/CHD/?p=summary
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The CHD7 database contains locus-specific, anonymised mutation data on both published and unpublished variants of the CHD7 gene related to the CHARGE syndrome phenotype. It can be searched for patients and their clinical phenotype or for mutations. It can be used as a central, quick reference database for anyone who encounters a variant in the CHD7 gene. Mutations are numbered according to the current reference sequence (GenBank Accession no. NM017780.2).
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