HPO
type: NamingSystem
node role: treeRoot
id:
  v: HPO
text:
  status:
    v: generated
  div: Generated Narrative: NamingSystem HPO Summary Defining URL http://terminology.hl7.org/NamingSystem/HPO Version 1.0.0 Name HPO Title Human Phenotype Ontology Status active Definition "The Human Phenotype Ontology (HPO) provides 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. HPO currently contains over 13,000 terms and over 156,000 annotations to hereditary diseases. The HPO project and others have developed software for phenotype-driven differential diagnostics, genomic diagnostics, and translational research. The HPO is a flagship product of the Monarch Initiative, an NIH-supported international consortium dedicated to semantic integration of biomedical and model organism data with the ultimate goal of improving biomedical research. The HPO, as a part of the Monarch Initiative, is a central component of one of the 13 driver projects in the Global Alliance for Genomics and Health (GA4GH) strategic roadmap." Please see https://hpo.jax.org/app/download/ontology. Releases, produced approximately every 2 months, can be found here. Identifiers Type Value Preferred Period Comment URI http://human-phenotype-ontology.org true 2022-06-02 --> (ongoing) This is the URL as specified by the terminology owner, and is considered authoritative. OID 2.16.840.1.113883.6.339 true URI http://purl.obolibrary.org/obo/hp.owl false 2022-06-02 --> (ongoing)
extension:
  url:
    v: http://hl7.org/fhir/5.0/StructureDefinition/extension-NamingSystem.url
  value:
    v: http://terminology.hl7.org/NamingSystem/HPO
extension:
  url:
    v: http://hl7.org/fhir/5.0/StructureDefinition/extension-NamingSystem.version
  value:
    v: 1.0.0
extension:
  url:
    v: http://hl7.org/fhir/5.0/StructureDefinition/extension-NamingSystem.title
  value:
    v: Human Phenotype Ontology
name:
  v: HPO
status:
  v: active
kind:
  v: codesystem
date:
  v: 2022-06-02T00:00:00-00:00
contact:
  name:
    v: Peter Robinson or Melissa Haendel, The Monarch Initiative
  telecom:
    system:
      v: url
    value:
      v: http://www.human-phenotype-ontology.org/
description:
  v: "The Human Phenotype Ontology (HPO) provides 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. HPO currently contains over 13,000 terms and over 156,000 annotations to hereditary diseases. The HPO project and others have developed software for phenotype-driven differential diagnostics, genomic diagnostics, and translational research. The HPO is a flagship product of the Monarch Initiative, an NIH-supported international consortium dedicated to semantic integration of biomedical and model organism data with the ultimate goal of improving biomedical research. The HPO, as a part of the Monarch Initiative, is a central component of one of the 13 driver projects in the Global Alliance for Genomics and Health (GA4GH) strategic roadmap." Please see https://hpo.jax.org/app/download/ontology. Releases, produced approximately every 2 months, can be found [here](https://github.com/obophenotype/human-phenotype-ontology/releases).
unique id:
  type:
    v: uri
  value:
    v: http://human-phenotype-ontology.org
  preferred:
    v: true
  comment:
    v: This is the URL as specified by the terminology owner, and is considered authoritative.
  period:
    start:
      v: 2022-06-02
unique id:
  type:
    v: oid
  value:
    v: 2.16.840.1.113883.6.339
  preferred:
    v: true
unique id:
  type:
    v: uri
  value:
    v: http://purl.obolibrary.org/obo/hp.owl
  preferred:
    v: false
  period:
    start:
      v: 2022-06-02