OMIM — Online Mendelian Inheritance in Man

Overview

Online Mendelian Inheritance in Man (OMIM) is a curated compendium of human genes and genetic phenotypes, maintained by Johns Hopkins University since 1966 (originally as a print catalogue by Victor McKusick). Each entry has a unique MIM number identifying either a gene or a phenotype, and describes the molecular basis, inheritance pattern, clinical features, and genotype-phenotype relationships.

MIM Number System

OMIM assigns unique 6-digit identifiers with prefix symbols indicating the entry type. A hash (#) prefix indicates a phenotype with known molecular basis. A percent (%) prefix indicates a phenotype with unknown or suspected genetic basis. A plus (+) prefix indicates a gene of known sequence and phenotype.

Connections

• Uses: HPO (phenotype annotation of disease entries)
• Cross-references: ClinVar (variant records linked from gene entries)

Resources

• https://omim.org
• https://omim.org/downloads (bulk data downloads, CC BY-NC-ND licence)