What does OMIM stand for?
What does OMIM stand for?
OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.
How many diseases are in OMIM?
OMIM has 450 entries with 5 or more AVs, 210 with 10 or more, 5 with 100 or more, and only 1 with more than 300, the HBB entry (141900).
What is Mendelian disease?
Mendelian disorders, for example, occur when specific mutations in single genes — called germline mutations — are inherited from either of one’s two parents. Well-known examples of Mendelian diseases include cystic fibrosis, sickle cell disease, and Duchenne muscular dystrophy.
How do I search OMIM?
OMIM Search Help
- OMIM Search Help.
- For basic searches, simply enter the terms in the search box and click the ‘Search’ button:
- Adding a ‘+’ (plus) operator before specific terms will ensure that these appear in the entries returned:
- You can search for phrases by adding quotation marks at both ends of the phrase:
Who supports OMIM?
An Online Catalog of Human Genes and Genetic Disorders OMIM is supported by a grant from NHGRI, licensing fees, and generous contributions from people like you.
What genes are associated with Hyperphenylalaninemia?
Mutations in the human PAH gene, which encodes phenylalanine hydroxylase are associated with varying degrees of hyperphenylalaninemia (HPA). The more severe of these manifest as a classic metabolic disease–phenylketonuria (PKU).
What is the use of OMIM?
OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 16,000 genes. OMIM focuses on the relationship between phenotype and genotype.
Is OMIM a primary database?
Online Mendelian Inheritance in Man (OMIM), a continuation of Dr Victor A. McKusick’s Mendelian Inheritance in Man (MIM) (1), is the primary repository of comprehensive, curated information on genes and genetic phenotypes and the relationships between them.
What causes Mendelian disorder?
Mendelian or monogenic diseases are caused by mutations in one gene. They run in families sometimes. Mendelian disorders are a result of a mutation at a single genetic locus. This locus could be present on an autosome or a sex chromosome.
What are Mendelian disorders give two example?
Mendelian disorders are a group of genetic disorders which are characterized by alterations (mutations) in one gene. Sickle Cell anemia and Phenylketonuria are examples of Mendelian disorders.
Is OMIM reliable?
OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 16,000 genes.
Is Hyperphenylalaninemia the same as PKU?
Benign hyperphenylalaninemia (H-PHE) is a mild form of phenylketonuria. It is considered an amino acid condition because people with H-PHE have problems breaking down an amino acid, a building block of proteins, known as phenylalanine. Most people with this condition experience mild symptoms or no symptoms.