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  • Database
    A catalog of essays reviewing human genetic traits that follow classical Mendelian inheritance patterns. Whenever available information permits, each entry consists of six parts: (1) a preferred designation, and frequently used synonyms, (2) a brief description of the phenotype(s), (3) the nature of the basic defect, (4) a résumé of pertinent genetic information including mapping and molecular genetic details, (5) an exhaustive list and description of known allelic variants, and (6) key references. An attempt has been made to select references that are up to date and/or particularly useful discussions of the genetics involved. The catalog provides a bibliographic guide. OMIM is a full text database searchable by the IRX (tm) software developed by the National Library of Medicine. Access to the database is provided as a service to biomedical professionals by the Johns Hopkins University School of Medicine under the sponsorship of the National Institutes of Health and the Department of Energy. A database that features catalogs of autosomal dominant, autosomal recessive, x-linked, y-linked, and mitochondrial phenotypes. Includes information on human genes and genetic disorders.