Rare disease databases

OMIM

Online Mendelian Inheritance in Man
"The gold-standard compendium of human genes and Mendelian disease."
curatedgenesMendelian

About the resource

OMIM is the digital successor to Victor McKusick's printed Mendelian Inheritance in Man (1966), maintained at Johns Hopkins University and updated daily. It catalogues human genes (gene entries) and the heritable phenotypes associated with them (disorder entries), each assigned a six-digit MIM number whose first digit encodes provenance and inheritance.

Its roughly 25,000 entries (combining gene and phenotype records) are curated from the primary literature by a small, expert team. Each entry includes detailed clinical synopses, inheritance, gene–phenotype mapping with allelic variants, animal models and references. OMIM is the canonical reference for inherited disease and is integrated into nearly every clinical genetics database. Free for academic use; commercial use is licensed.

What you'd use it for

  1. 01Find the canonical clinical synopsis for a Mendelian disorder
  2. 02Look up allelic variants and gene–phenotype mappings
  3. 03Anchor genetic-test report interpretation to a stable MIM identifier
  4. 04Trace the literature trail that established a gene–disease association

How you access it

Web UIBulk file downloads (per licence)Cross-referenced from most genomic resources

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