- Phenotips : a software tool for collecting and analyzing phenotypic information of patients with genetic disorders.
- PhenomeCentral: a repository for clinicians and scientists working in the rare disorder community.
- Monarch Initiative builds and maintains a curated knowledge base that links genotype-phenotype associations across a large number of species (including humans).
- Exomiser software package annotates, filters, and prioritizes variants in a patient’s exome based on their phenotype (encoded using the HPO). PhenomeCentral depends on the Exomiser to analyze exome sequence data and prioritize genes for genomic matching
- Human Phenotype Ontology (HPO) a standardized vocabulary of phenotypic abnormalities encountered in human disease.
- Matchmaker exchange (MME) conects doctors working in rare diseases with researchers to facilitate the sharing of data of undiagnosed patients to be able to discover new genes.
- Mendelian: Genetic Rare Disease Search Tool