A toolkit for working with Human Phenotype Ontology (HPO) and HPO disease annotations in Python.
Loading HPO is as simple as:
import hpotk
hpo = hpotk.load_ontology('http://purl.obolibrary.org/obo/hp.json')
Now you have HPO concepts and the ontology hierarchy at your fingertips.
Next, load the HPO disease annotations by running:
from hpotk.annotations.load.hpoa import SimpleHpoaDiseaseLoader
hpoa_path = 'https://github.com/obophenotype/human-phenotype-ontology/releases/download/v2023-10-09/phenotype.hpoa'
loader = SimpleHpoaDiseaseLoader(hpo)
diseases = loader.load(hpoa_path)
assert len(diseases) == 12_468
You got yourself phenotype annotations of 12,468 rare diseases.
Find more info in our detailed documentation:
- Stable documentation (last release on
main
branch) - Latest documentation (bleeding edge, latest commit on
development
branch)