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layout ontology_detail
id hp
alternativePrefix HPO
description A structured and controlled vocabulary for the phenotypic features encountered in human hereditary and other disease.
domain phenotype
twitter hp_ontology
homepage http://www.human-phenotype-ontology.org/
contact
email label github
dr.sebastian.koehler@gmail.com
Sebastian Koehler
drseb
license
url label
hpo
products
id
hp.owl
id
hp.obo
taxon
id label
NCBITaxon:9606
Homo sapiens
title Human Phenotype Ontology
jobs
build
source_url path method infallible
archive/hp
archive
1
tracker https://github.com/obophenotype/human-phenotype-ontology/issues/
mailing_list https://groups.io/g/human-phenotype-ontology
browsers
label title url
HPO
JAX HPO Browser
label title url
Monarch
Monarch Phenotype Page
publications
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.
usages
user type description examples reference
annotation
HPO is used by the Monarch Initiative for phenotype annotations.
activity_status 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: