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layout id alternativePrefix description domain twitter homepage contact products taxon title jobs build tracker termgenie mailing_list browsers publications
ontology_detail
hp
HPO
A structured and controlled vocabulary for the phenotypic features encountered in human hereditary and other disease.
phenotype
hp_ontology
email label github
Sebastian Koehler
drseb
id
hp.owl
id
hp.obo
id label
NCBITaxon:9606
Homo sapiens
human phenotype ontology
label title url
Monarch
Monarch Phenotype Page
id title
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.
id title
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.
id title
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

An ontology is a computational representation of a domain of knowledge based upon a controlled, standardized vocabulary for describing entities and the semantic relationships between them.

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.

The HPO can be browsed using: