Crossmapped phenotype ontologies for the oncology domain
A command line utility for operating over Phenotype eXchange Format (PXF) files.
Indonesia Exome Rare Disease Variant Discovery Pipeline. Phenotype analysis part available on Streamlit and PyPi
IdeRare Phenotype Analysis suite : Convert Indonesia SATUSEHAT terminology (SNOMED-CT, LOINC, ICD-10) to Rare Disease Terminology / Ontology (HPO, OMIM) and find the likelihood differential gene and disease explaining patient phenotype
Core Ontology of Phenotyping
Add a description, image, and links to the phenotype-exchange-format topic page so that developers can more easily learn about it.
To associate your repository with the phenotype-exchange-format topic, visit your repo's landing page and select "manage topics."