PathoPhenoDB
PathoPhenoDB
PathoPhenoDB (/ˈpæθoʊˈfiːnoʊˈdiːˈbiː/) is a comprehensive database that integrates information about human genetic diseases and associated phenotypes.
Etymology
The term "PathoPhenoDB" is a combination of "Patho", derived from the Greek word "pathos" meaning disease, and "PhenoDB", an abbreviation for "Phenotype Database".
Overview
PathoPhenoDB is a resource that provides a comprehensive collection of human genetic diseases and their associated phenotypes. It is designed to facilitate the study of disease mechanisms, the development of new therapeutic strategies, and the improvement of clinical diagnosis. The database integrates information from various sources, including OMIM (Online Mendelian Inheritance in Man), Orphanet, and ClinVar, among others.
Features
PathoPhenoDB includes several key features:
- Disease Annotation: Each entry in the database is annotated with information about the associated disease, including its name, synonyms, and a brief description.
- Phenotype Annotation: The database includes detailed information about the phenotypes associated with each disease, including their HPO (Human Phenotype Ontology) terms and descriptions.
- Gene-Disease Associations: PathoPhenoDB provides information about the genes associated with each disease, including their HGNC (HUGO Gene Nomenclature Committee) symbols and descriptions.
- Variant-Disease Associations: The database includes information about the genetic variants associated with each disease, including their rsIDs (Reference SNP cluster ID) and descriptions.
Related Terms
External links
- Medical encyclopedia article on PathoPhenoDB
- Wikipedia's article - PathoPhenoDB
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