External Data Sources

Baylor-Hopkins Center for Mendelian Genomics draws data from a number of external sources to help with analysis and identifier mappings.

External Data Sources
ACMG Annual Clinical Genetics Meeting
ClinVar ClinVar
Elements of Morphology For feature images
GeneCards The Human Gene Compendium
GeneImprint Gene Imprinting
Genentech GeneHub-GEPIS
GWAS Catalog GWAS Catalog
HGNC HUGO Gene Nomenclature Committee
Human Phenotype Ontology PhenoDB uses the current release Human Phenotype Ontology for feature definitions
ICHPT For PhenoDB ID to HPO ID mappings and HPO feature definitions
MGI Mouse Genome Informatics
OMIM Online Mendelian Inheritance in Man
OpenBioinformatics ANNOVAR conversion software
OrphaNet For OrphaNet to MIM number mappings
UniProt Universal Protein Resource
VISTA Enhancer VISTA Enhancer