OpenLife Sciences

HPO

Human Phenotype Ontology

Standardized vocabulary of phenotypic abnormalities. 16,000+ terms critical for rare disease diagnosis.

phenotypesrare-diseasesgenomics
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Class Hierarchy

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Use Cases

Where this one tends to earn its keep.

01

Rare disease differential diagnosis

02

Clinical genomics variant interpretation

03

Patient phenotype-based gene prioritization

04

Newborn screening program data analysis

Details

Maintained By
Monarch Initiative / JAX
License
Open

I haven't checked this label against the actual licence text — it's the catalogue's original guess. Check the ontology's own site before you rely on it.

Category
Life Sciences

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