Mondo Disease Ontology

Collections of GA4GH phenopackets that represent individuals with Mendelian diseases.

An ontology of gross anatomy covering metazoa. Works in concert with https://github.com/obophenotype/cell-ontology

An ontology of cell types

LLM-based ontological extraction tools, including SPIRES

A Python library for discovery of genotype-phenotype associations

Monarch Initiative website and API

source files for OBA (Ontology of Biological Attributes)

Coordinating the mondo-ingest with external sources

Analysis of LLMs for Clinical Observations

Data ingest application for Monarch Initiative knowledge graph using Koza

Data ingest pipeline for OMIM.

An integrated ontology for Phenomics

Ontology for the description of human clinical features

LLM-driven curation assist tool

Bootstrap an OBO Library ontology

Exomiser plugin for PhEval.

Phenotype2Phenopacket is a command-line tool that converts a phenotype annotation into GA4GH Phenopackets, facilitating standardised phenotypic data representation.

Simple Standard for Sharing Ontology Mappings

GA4GH Phenopacket to LLM prompt