Human Phenotype Ontology

The Human Phenotype Ontology (HPO) is a standardized vocabulary and framework for describing phenotypic abnormalities observed in human diseases in terms of clinical features (symptoms) and other observable characteristics, associated with genetic disorders and other medical conditions.

The HPO can be used to support differential diagnostics, translational research, and applications in computational biology by providing the means to compute over the clinical phenotype. The HPO is being used for computational deep phenotyping and precision medicine as well as integration of clinical data into translational research.

HPO terms are organized hierarchically, with more specific terms nested under broader categories. Each term is assigned a unique identifier and includes synonyms, definitions, and relationships to other terms within the ontology.

Example of an HPO term

HPO Term: Microcephaly (HP:0000252)

Definition: A condition characterized by a smaller than normal head circumference.

Hierarchy: Microcephaly is a subtype of “abnormality of head or neck” and is more specific than the broader term “abnormality of head size.“

More info: https://hpo.jax.org/app/