Please be advised: We are in the process of updating PhenoDB. Please report any errors to [email protected] Thank you for your patience.
External Data Sources
GeneMatcher draws data from a number of external sources to help with identifier mappings.
| External Data Sources | ||
|---|---|---|
| Elements of Morphology | For phenotypic feature images | |
| ICHPT | For phenotypic feature mappings to ICHPT terms | |
| HGNC | For Gene Symbol, Ensembl Gene ID and Entrez Gene ID mappings | |
| Human Phenotype Ontology | For phenotypic feature definitions | |
| OMIM | For MIM number validation and titles | |
| OrphaNet | For OrphaNet to MIM number mappings | |
| UCSC Lift Genome Annotations | For build liftover | |