Human Phenotype Ontology (HPO)
verifieddata/human-phenotype-ontology
Standardised vocabulary of phenotypic abnormalities seen in human disease, widely used in rare-disease diagnostics.
A human confirmed this record against its sources within the last 12 months.
- Category
- Data & Standards
- Subcategory
- ontology
- License
- NOASSERTION(unknown)
- Status
- active
- Maturity
- deployed
- Organization
- unknown
- Country
- unknown
- Documentation
- unknown
- Tags
- ontology · phenotype · rare-disease
- Regulatory
- unknown
- Mondo Disease Ontology
Unified disease ontology merging terminology from OMIM, Orphanet, DO, and other sources into a single hierarchy.
Top contributors by commit count, from the project’s public repository. Avatars are served by their origin, not stored here. To be removed from this list, open an issue.
Computed from shared tags, weighted so a rare tag counts for more than a common one. These are suggestions, not curated relationships.
- OntoloVizontology · phenotype
GUI for drug and phenotype ontology visualization
- chronological-map-phenotypesphenotype
Machine-readable version of electronic health record phenotypes for Kuan V. and Denaxas S. et al.
- map-explorerphenotype
Use MAP to explore EHR data for individual patients.
- Phenoversephenotype
Deep interpretable learning of sample representations for characterizing disease states in single-cell transcriptomics
- omicsDiagnosticsrare-disease
This repository contains different scripts to automate and visualize analysis performed for the "Integration of proteomics with genomics and transcriptomics increases the diagnosis rate of Mendelian…
- rare-disease-wfrare-disease
(WIP) best-practices workflow for rare disease
- api.github.com/repos/obophenotype/human-phenotype-ontologyretrieved 2026-08-04 · via github-api
Last push 2026-08-02. GitHub reports NOASSERTION and the LICENSE file only refers readers to the HPO website for licence terms, so no SPDX identifier is recorded.
Verified 2026-08-04 by gh:judegomila. Correct this record →
/v1/entries/19.json→ .entries["human-phenotype-ontology"]
Entries are sharded 64 ways by a stable hash of the id, so a consumer can find any record without an index.