OMIM diseases as a function of associated HPO phenotypes. Data include
Por um escritor misterioso
Last updated 12 abril 2025

Screening genes of the panel. HGMD, Human Gene Mutation Database

Curation and expansion of Human Phenotype Ontology for defined

PDF] HPOSim: An R Package for Phenotypic Similarity Measure and

HPO terms organized by organ system. (A) Counts for top-level

Predicting genes from phenotypes using human phenotype ontology

Clinical phenotype-based gene prioritization: an initial study

Common genetic variation associated with Mendelian disease

PDF] OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an

Table 1 from OMIM.org: Online Mendelian Inheritance in Man (OMIM

JPM, Free Full-Text
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