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layout id alternativePrefix description domain twitter homepage contact license products taxon title jobs build tracker mailing_list browsers publications usages activity_status
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
HPO
JAX HPO Browser
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.
id title
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
user type description examples reference
annotation
HPO is used by the Monarch Initiative for phenotype annotations.
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: