phenol: Phenotype ontology library
The implementation of paper "HPOFiller: identifying missing protein-phenotype associations by graph convolutional network".
EXPERIMENTAL rendering of phenopackets in linkml
GA4GH Phenopacket to LLM prompt
Functions for working with the Human Phenotype Ontology data
HPODNets: deep graph convolutional networks for predicting human protein-phenotype associations
DEMO example knowledge base created using DRAGON-AI
Annotations to terms of the Medical Action Ontology (MAxO)
The implementation of HPOLabeler, which has been published on Bioinformatics (Title: "HPOLabeler: improving prediction of human protein–phenotype associations by learning to rank", DOI: https://doi.org/10.1093/bioinformatics/btaa284). The source codes are for reference only, please do not upload them to other platforms. Due to requirements of my…
Multi-Scale Target Explorer systematically identifies, prioritises, and visualises cell-type-specific gene therapy targets across the phenome.
A web portal for rare disease research with bidirectional queries, integrated datasets, and interactive visualizations for exploring phenotypes, genes, and cell types.
Repository to develop layperson descriptions of rare diseases
Offline medical ontology search engine, relational database, and Python library for the Disease Ontology (DOID) and Human Phenotype Ontology (HPO).
Graph-based Human Phenotype Ontology explorer for phenotype-set building and disease/gene prioritization support.
Gene prioritisation tool using a weighted network methodology based on Gene Ontology and Human Phenotype Ontology annotations to infer closely related genes to given genes of interest.
Python library to work with HPO (Human Phenotype Ontology) terms and their gene/disease associations
MCP server for the Human Phenotype Ontology (HPO): phenotype term lookup, the is_a hierarchy, cross-ontology mapping, and gene–phenotype–disease associations from HPO and HPOA.
HPO Explorer (hpoexplorer.com) — free web app for the Human Phenotype Ontology & clinical-note-to-HPO extraction. Not the HPOExplorer R package.
FaceMesh2HPO is a research codebase for hierarchical classification of facial phenotypic descriptors aligned with the Human Phenotype Ontology (HPO) from 3D face meshes derived from 2D facial photographs.
AI-powered Rare Genetics Diagnostics Platform - Physician Support - iGEM 2025
To associate your repository with the human-phenotype-ontology topic, visit your repo's landing page and select "manage topics."