Human Phenotype Ontology

Other names: HP, HPO, hpo

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.

Webpage:
https://hpo.jax.org/

Licence:
Name: HPO - specific
URL: https://hpo.jax.org/app/license

Publications: (7)

Tags:

disease phenotype genomics genome annotation terms, ontologies and nomenclature genotype and phenotype ontology and terminology human literature and language rare diseases

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