OMIM

OMIM provides a curated, cross-referenced knowledgebase of human genes and genetic phenotypes to support genotype–phenotype interpretation in research and clinical genetics.

Key Features:

• Literature curation: Content is meticulously curated from the biomedical literature and edited with contributions from scientists and physicians.
• Entry structure: Entries are structured free-text summaries describing genetically determined phenotypes or genes.
• MIM identifiers: Each entry is assigned a stable six-digit MIM number for unique identification.
• Cross-references: Entries include links to DNA and protein sequences, PubMed references, mutation databases, HUGO nomenclature, MapViewer, GeneTests, and patient support groups.
• Morbid Map: A derivative table, the Morbid Map, organizes genes and genetic phenotypes systematically.
• Phenotypic Series: Phenotypic Series group related entries to facilitate exploration of genetic heterogeneity.
• Clinical synopses and ontologies: Clinical synopses are enriched with links to UMLS, Human Phenotype Ontology, Elements of Morphology terms, and images.
• Entrez integration: OMIM content is integrated with the NCBI Entrez suite of databases.
• Search capabilities: Supports genome coordinate searching and thesaurus-enhanced search term options.
• Programmatic access: OMIM supports computational queries via an API and provides full data for FTP download.
• MIMmatch: MIMmatch disseminates updates and facilitates collaboration and information exchange.
• Scope and currency: As of September 2018 OMIM contained over 24,600 entries, including more than 6,259 molecularized phenotypes linked to 3,961 genes, with continuous updates (approximately 70 new entries and 700 revisions monthly).

Scientific Applications:

• Genotype–phenotype interpretation: Supports interpretation of genetic variants by linking molecularized phenotypes to causative genes.
• Clinical genetics: Serves as a reference for diagnosing and characterizing inherited disorders and clinical synopses.
• Genetic heterogeneity analysis: Enables exploration of allelic and locus heterogeneity through Phenotypic Series and Morbid Map organization.
• Research annotation and cross-referencing: Provides curated literature and cross-references to sequence resources, mutation databases, and nomenclature for genomic research.
• Ontology-driven phenotype analysis: Facilitates phenotype standardization and computational phenotype analysis via UMLS and Human Phenotype Ontology links.

Methodology:

Entries are curated from the biomedical literature and edited into structured free-text records assigned stable six-digit MIM numbers; a Morbid Map is derived to organize gene–phenotype relationships; content is integrated with NCBI Entrez and linked to sequence resources and ontologies, and is exposed via genome-coordinate/thesaurus search, an API, and FTP downloads.