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 |