CNV syndromes in the DECIPHER genomics database that are linked to Human Phenotype Ontology terms

Prefix

decipher

Keywords

biomedical science life science

Links

Homepage

Contact

Jawahar Swaminathan   0000-0002-0215-4084

Pattern for Local Unique Identifiers

Local identifiers in DECIPHER CNV Syndromes should match this regular expression:
^\d+$

Example Local Unique Identifier

1   Resolve

Pattern for CURIES

Compact URIs (CURIEs) constructed from DECIPHER CNV Syndromes should match this regular expression:
^decipher:\d+$

Example CURIE

decipher:1

Publications

• 2013 DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation
• 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

Contributors

• submitter Charles Tapley Hoyt   0000-0003-4423-4370   cthoyt

The metaregistry provides mappings between the Bioregistry and other registries. There are 2 mappings to external registries for this resource with 2 unique external prefixes.

A provider turns a local unique identifiers from a resource into a URI. Many providers are also resolvable as URLs (i.e., they can be used in a web browser).

The local unique identifier 1 is used to demonstrate the providers available for DECIPHER CNV Syndromes. A guide for curating additional providers can be found here.