{"url":"/dataset/hpo","name":"HPO","full_name":"Human Phenotype Ontology","description_markdown":"The Human Phenotype Ontology (HPO) graph is a standardized vocabulary of human phenotypic abnormalities and their relationships. It represents these abnormalities as nodes in a graph, with edges indicating relationships such as subtypes or overlapping features. The HPO graph is organized in a hierarchical structure, with more general terms at the top and more specific terms at the bottom. The ontology provides a framework for the annotation of human genetic variations, aiding in the diagnosis of rare genetic disorders and the identification of potential therapeutic targets.","description_withheld":null,"homepage":"https://hpo.jax.org/app/","introduced_date":null,"introduced_date_note":null,"introduced_by":null,"license":null,"modalities":[],"tasks":[],"languages":[{"name":"English","url":"/datasets/language/english"}],"variants":["HPO"],"data_loaders":[],"num_papers_in_archive":1,"source":{"archive":"pwc-archive (Hugging Face), CC BY-SA 4.0","snapshot":"2025-07-28"},"benchmarks":[],"papers_with_a_benchmark_row":[],"syntology_totals":{"read_at":"2026-09-24T18:15:14+00:00","papers_with_samples":0,"samples_harvested":0,"samples_ran":0,"samples_unverified":0,"pointer_only_for_licence":0,"papers_with_no_sample_that_ran":0,"note":"the per-paper counts above, summed; not a rate"},"papers_note":"The archive never published its papers-using-dataset list; these are papers with a leaderboard row on this dataset's benchmarks."}