MIM

Online Mendelian inheritance in Man (OMIM)

Compendium of human genes and genetic phenotypes. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 12,000 genes. OMIM focuses on the relationship between phenotype and genotype.

IDMIM
IDaltOMIM
AccDB-0062
Homehttp://www.ncbi.nlm.nih.gov/omim/
EDAM topicHuman disease
EDAM topicOrganism
EDAM topicGenotype and phenotype
CategoryOrganism-specific databases
TaxonHomo sapiens

Available data

Data Format Query Link
Genotype/phenotype annotation {OMIM entry} HTML OMIM ID http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=OMIM&dopt=Detailed&tmpl=dispomimTemplate&list_uids=%s

Example queries

Data Format Query Example
Genotype/phenotype annotation {OMIM entry} HTML OMIM ID 125700