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layout id title browsers build contact depicted_by description domain homepage jobs license mailing_list preferredPrefix products publications repository taxon tracker twitter usages activity_status
ontology_detail
hp
Human Phenotype Ontology
title label url
JAX HPO Browser
HPO
title label url
Monarch Phenotype Page
Monarch
email github label orcid
drseb
Sebastian Koehler
0000-0002-5316-1399
A structured and controlled vocabulary for the phenotypic features encountered in human hereditary and other disease.
phenotype
HP
id
hp.owl
id
hp.obo
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.
id title
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
id label
NCBITaxon:9606
Homo sapiens
hp_ontology
description examples reference type user
HPO is used by the Monarch Initiative for phenotype annotations.
annotation
active

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: