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OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.

Amberger JS, Bocchini CA, Schiettecatte F, Scott AF, Hamosh A - Nucleic Acids Res. (2014)

Bottom Line: Clinical synopsis features are enhanced with UMLS, Human Phenotype Ontology and Elements of Morphology terms and image links.All OMIM data are available for FTP download and through an API.MIMmatch is a novel outreach feature to disseminate updates and encourage collaboration.

View Article: PubMed Central - PubMed

Affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA joanna@peas.welch.jhu.edu.

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Diagram of OMIM content. Dashed lines indicate that not all genes have allelic variants; not all phenotypes are mapped; and mapped phenotypes are not necessarily part of a Phenotypic Series.
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Figure 1: Diagram of OMIM content. Dashed lines indicate that not all genes have allelic variants; not all phenotypes are mapped; and mapped phenotypes are not necessarily part of a Phenotypic Series.

Mentions: The overall structure of OMIM is shown in Figure 1. Descriptions of genes are separate from those of phenotypes because distinct mutations in one gene may cause different phenotypes. Variants in a gene reside in the gene entry. Clinical synopses, brief structured clinical descriptions, are linked to the phenotype entries. When several phenotype entries overlap significantly in their clinical manifestations, they may be curated into a Phenotypic Series. The creation of Phenotypic Series is a matter of clinical judgment, not computed similarity. OMIM's gene map is a tabular database that brings together genes and phenotypes when evidence merits and facilitates the creation of Phenotypic Series. As an adjunct to native OMIM data, OMIM gene and phenotype entries have copious external links to relevant information in other curated databases.


OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.

Amberger JS, Bocchini CA, Schiettecatte F, Scott AF, Hamosh A - Nucleic Acids Res. (2014)

Diagram of OMIM content. Dashed lines indicate that not all genes have allelic variants; not all phenotypes are mapped; and mapped phenotypes are not necessarily part of a Phenotypic Series.
© Copyright Policy - creative-commons
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4383985&req=5

Figure 1: Diagram of OMIM content. Dashed lines indicate that not all genes have allelic variants; not all phenotypes are mapped; and mapped phenotypes are not necessarily part of a Phenotypic Series.
Mentions: The overall structure of OMIM is shown in Figure 1. Descriptions of genes are separate from those of phenotypes because distinct mutations in one gene may cause different phenotypes. Variants in a gene reside in the gene entry. Clinical synopses, brief structured clinical descriptions, are linked to the phenotype entries. When several phenotype entries overlap significantly in their clinical manifestations, they may be curated into a Phenotypic Series. The creation of Phenotypic Series is a matter of clinical judgment, not computed similarity. OMIM's gene map is a tabular database that brings together genes and phenotypes when evidence merits and facilitates the creation of Phenotypic Series. As an adjunct to native OMIM data, OMIM gene and phenotype entries have copious external links to relevant information in other curated databases.

Bottom Line: Clinical synopsis features are enhanced with UMLS, Human Phenotype Ontology and Elements of Morphology terms and image links.All OMIM data are available for FTP download and through an API.MIMmatch is a novel outreach feature to disseminate updates and encourage collaboration.

View Article: PubMed Central - PubMed

Affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA joanna@peas.welch.jhu.edu.

Show MeSH