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

Prefix

decipher

Links

Homepage

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

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

Contact

Jawahar Swaminathan   0000-0002-0215-4084

Contributors

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

A summary of the relations in the Bioregistry schema can be found here.

In Collection (1)

Synapse.org external links

Mappings from records in Bioregistry to external registries comprises the metaregistry. This resource has 1 mapping to an external registry.

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. Some providers may use a different example, which is displayed in the table below. A guide for curating additional providers can be found here.