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

Missing Contact

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.