standards > terminology artifact > DOI:10.25504/FAIRsharing.b82qvn


ready Congenital Heart Defects Ontology

Abbreviation: CHD


General Information
Congenital Heart Defects Ontology (CHD) is a standard that represents the ontology of CHD.

Homepage https://bioportal.bioontology.org/ontologies/CHD/?p=summary

Countries that developed this resource Belgium

Created in 2013

Taxonomic range

Knowledge Domains 




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.

Show edit history



Support

No support information provided.

Additional Information

External Links


Tools

    No tools defined


Schemas

No XSD schemas defined


Access / Retrieve Data

Conditions of Use





Publications

No publications available


CHD Ontology Display

View in BioPortal.


Disclaimer: This widget assumes the availability of the ontology resources in the NCBO BioPortal.


Related Standards

Reporting Guidelines

No guidelines defined

Terminology Artifacts

No semantic standards defined

Models and Formats

No syntax standards defined

Identifier Schemas

No identifier schema standards defined

Metrics

No metrics standards defined


Related Databases (1)
CHD7 Database
The CHD7 database contains locus-specific, anonymised mutation data on both published and unpublished variants of the CHD7 gene related to the CHARGE syndrome phenotype.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).

Implementing Policies

This record is not implemented by any policy.


Credit

Record Maintainer

  • This record is in need of a maintainer. If you login, you'll be able to claim this record.