{"prefix": "hp", "name": "Human Phenotype Ontology", "description": "The Human Phenotype Ontology (HPO) aims to provide a standardized vocabulary of phenotypic abnormalities encountered in human disease. Each term in the HPO describes a phenotypic abnormality, such as atrial septal defect. The HPO is currently being developed using the medical literature, Orphanet, DECIPHER, and OMIM.", "pattern": "^\\d{7}$", "uri_format": "https://hpo.jax.org/app/browse/term/HP:$1", "providers": [], "homepage": "http://www.human-phenotype-ontology.org/", "repository": "https://github.com/obophenotype/human-phenotype-ontology", "contact": {"name": "Sebastian Koehler", "orcid": "0000-0002-5316-1399", "email": "dr.sebastian.koehler@gmail.com", "github": "drseb"}, "example": "0011140", "license": "hpo", "version": "2022-06-11", "download_owl": "http://purl.obolibrary.org/obo/hp.owl", "download_obo": "http://purl.obolibrary.org/obo/hp.obo", "download_json": "http://purl.obolibrary.org/obo/hp.json", "banana": "HP", "deprecated": false, "mappings": {"aberowl": "HP_O", "bartoc": "1937", "biocontext": "HPO", "bioportal": "HP_O", "fairsharing": "FAIRsharing.kbtt7f", "hl7": "2.16.840.1.113883.6.339", "miriam": "hp", "n2t": "hp", "obofoundry": "hp", "ols": "hp", "ontobee": "HP", "wikidata": "P3841"}, "synonyms": ["hpo"], "publications": [{"pubmed": "30476213", "doi": "10.1093/nar/gky1105", "pmc": "PMC6324074", "title": "Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.", "year": 2019}, {"pubmed": "27899602", "doi": "10.1093/nar/gkw1039", "pmc": "PMC5210535", "title": "The Human Phenotype Ontology in 2017.", "year": 2016}, {"pubmed": "26119816", "doi": "10.1016/j.ajhg.2015.05.020", "pmc": "PMC4572507", "title": "The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.", "year": 2015}, {"pubmed": "24217912", "doi": "10.1093/nar/gkt1026", "pmc": "PMC3965098", "title": "The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.", "year": 2013}, {"pubmed": "20412080", "doi": "10.1111/j.1399-0004.2010.01436.x", "title": "The human phenotype ontology.", "year": 2010}, {"pubmed": "18950739", "doi": "10.1016/j.ajhg.2008.09.017", "pmc": "PMC2668030", "title": "The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.", "year": 2008}], "appears_in": [], "depends_on": [], "namespace_in_lui": true, "preferred_prefix": "HP", "twitter": "hp_ontology"}