Phenotips is a software tool for collecting and analyzing phenotypic information from patients with genetic abnormalities.
The Monarch Initiative builds and maintains a curated knowledge base of genotype-phenotype associations across a wide range of species (including humans).
The Human Phenotype Ontology (HPO) is a standardized vocabulary of phenotypic abnormalities associated with human disease.
MARRVEL (Model organism Aggregated Resources for Rare Variant Exploration) aims to facilitate the use of public genetic resources to prioritize rare human gene variants for study in model organisms.
PhenomeCentral is a repository for doctors and researchers working on rare diseases.
The Exomiser is a software package that annotates, filters, and prioritizes variants in a patient’s exome based on their phenotype (encoded according to HPO). PhenomeCentral relies on Exomiser to analyze exome sequencing data and prioritize candidate genes.
Matchmaker Exchange (MME) connects doctors working on rare diseases with researchers to facilitate the sharing of undiagnosed patient data in order to discover new genes.