rare-disease-hpo-mapperMap patient symptoms to Human Phenotype Ontology terms for gene diagnosis.
Install via ClawdBot CLI:
clawdbot install aipoch-ai/rare-disease-hpo-mapperGrade Fair — based on market validation, documentation quality, package completeness, maintenance status, and authenticity signals.
Generated May 7, 2026
A clinical geneticist inputs patient symptoms and age of onset to receive HPO term suggestions and differential diagnosis genes. The tool helps narrow down candidate genes for exome sequencing analysis.
Genetic counselors use the mapper to pre-process patient symptom descriptions into standardized HPO terms before counseling sessions. This ensures consistent documentation and supports evidence-based discussions with families.
Researchers mapping clinical data from electronic health records to HPO terms for cohort building in rare disease studies. The tool provides confidence scores and literature links to validate phenotype assignments.
Pediatric hospitals use the mapper during intake to quickly categorize undiagnosed patients by symptom patterns. This aids in prioritizing cases for further genetic testing and specialist referral.
Offer the HPO mapper as a cloud-based API integrated into laboratory information systems. Labs pay per analysis or monthly subscription to streamline their variant interpretation pipeline.
License the tool to large hospital networks for internal deployment, customized with their own reference databases. Revenue comes from annual licensing and implementation support.
Provide basic mapping functionality for free to build user base, with premium tiers offering advanced features like batch processing, priority support, and custom ontologies.
💬 Integration Tip
Integrate the Python script into existing analysis pipelines by calling it via command line with symptom input and output path parameters. Ensure Python 3.10+ and difflib are installed.
Scored May 7, 2026
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