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