OMIM diseases as a function of associated HPO phenotypes. Data include
Descrição
Linking common human diseases to their phenotypes; development of
Genes, Free Full-Text
Getting started with the rare disease database: OMIM
The Human Phenotype Ontology: Semantic Unification of Common and
Discovering Monogenic Patients with a Confirmed Molecular
Clinical phenotype-based gene prioritization: an initial study
Linking common human diseases to their phenotypes; development of
Phenotype-aware prioritisation of rare Mendelian disease variants
Frontiers Mapping OMIM Disease–Related Variations on Protein
HPOSim: An R Package for Phenotypic Similarity Measure and
Annotating Diseases Using Human Phenotype Ontology Improves
Matching whole genomes to rare genetic disorders: Identification
PDF] HPOSim: An R Package for Phenotypic Similarity Measure and
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