OMIM- Online Mendelian Inheritance in Man
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The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive knowledgebase of human genes and genetic disorders compiled to support genetics research and clinical practice. It contains information on disorders that are inherited in a Mendelian fashion and follow patterns of autosomal dominant, autosomal recessive, X-linked, Y-linked, or mitochondrial inheritance. Each genetic disorder in OMIM is assigned a unique six-digit number indicating its inheritance pattern. Users can search OMIM by disease name, gene, or chromosome to access detailed information on genetic disorders.
OMIM- Online Mendelian Inheritance in Man
- 1. Online Mendelian Inheritance in Man OMIM Database
- 2. Introduction • It is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics. • One of the best websites for detailed and updated information of genetic diseases. • Set up in 1995 by the National Centre for Biotechnology Information (NCBI).
- 3. DISORDERS DEALT WITH IN OMIM • Contains disorders which are inherited in a Mendelian fashion. • It does not include conditions resulting from chromosomal aberrations. • For example: Information about all genetic skin diseases and syndrome such as the ichthyosis, epidermolysis bullosa, neurofibromatosis and lipoid proteinosis. • Immunological or inflammatory disorders with a polygenic inheritance such as atopic dermatitis, psoriasis etc. are also included.
- 4. OMIM NUMBERS Each genetic disorder has been allotted a unique six digit OMIM number. The first digit indicates the mode of inheritance of the disorder, viz. 1. (100000- ) Autosomal dominant loci or phenotypes 2. (200000- ) Autosomal recessive loci or phenotypes 3. (300000- ) X-linked loci or phenotypes 4. (400000- ) Y-linked loci or phenotypes 5. (500000- ) Mitochondrial loci or phenotypes 6. (600000- ) Autosomal loci or phenotypes
- 5. HOW IS A DISEASE ACCESSED ON OMIM? • The basic search involves typing in the name of a disease, a chromosome number or a gene symbol, and clicking on ‘Go’. • In fact, almost 1900 entries show up for the word ‘skin’, giving one some idea of how many genetic disorders involve the skin. • For example, a search for ‘dermatitis’ shows about 226 entries which include various subtypes of dermatitis and related genetic conditions.
- 6. OMIM GENE MAP & OMIM MORBID MAP The OMIM gene map lists disorders gene wise, starting with chromosome 1p and ending with 22q, along with the X and Y chromosomes. Diseases which have been linked to specific genes on these chromosomes are available in this map. This map can be searched using the chromosome number, gene symbol or name of disorder. The OMIM morbid map is an alphabetical list of disorders and their cytogenetic locations. It can be searched in the same fashion as the OMIM gene map.
- 7. OTHER FEATURES • A click on OMIM statistics lets one know the total number of entries available on that day. • The website also provides details of changes, additions and deletions on a monthly basis since its inception in 1995. • OMIM also provides links to Pubmed, the Human Genome websites and other related genetic research websites.
- 8. WHAT DOES OMIM NOT PROVIDE? • OMIM does not have a complete list of all genetic disorders contained in it; these have to be searched by name or symbol. • It also does not provide facilities for the clinical evaluation and genetic testing of patients of suspected genetic diseases. • For these types of queries and information, other sources such as Genetic Alliance, NORD (National Organization for Rare Disorders) and Gene Tests may be useful.