HPO Phenotype Matcher Skill

SkillDev tools

Human Phenotype Ontology skill for phenotype-driven gene prioritization

Instructions available. Your AI can read the instructions. Execution depends on the setup they require.

Account requirements not reviewed. Check the skill instructions before use; ahel provides instructions and does not run this skill.

Add ahel to your AI once: Claude, ChatGPT, Cursor, Claude Code or Codex. Then ask it to use this.

Then ask your AI: use the HPO Phenotype Matcher Skill skill

What this skill tells your AI

The instructions your AI receives, as published by a5c-ai/babysitter in library/specializations/domains/science/bioinformatics/skills/hpo-phenotype-matcher/SKILL.md and read by ahel’s review.

Purpose

Provide Human Phenotype Ontology capabilities for phenotype-driven gene prioritization.

Capabilities

HPO term matching
Gene-phenotype association scoring
Semantic similarity analysis
Phenotype-variant correlation
Exomiser integration
Prioritization reporting

Usage Guidelines

Map clinical phenotypes to HPO terms
Calculate gene-phenotype associations
Use semantic similarity for ranking
Integrate with variant prioritization
Generate prioritization reports
Document phenotype encoding

Dependencies

HPO
Exomiser
Phen2Gene

Process Integration

Rare Disease Diagnostic Pipeline (rare-disease-diagnostics)
Clinical Variant Interpretation (clinical-variant-interpretation)

Signals

GitHub stars: 2k
Forks: 112
Last commit: Sep 2026

Advanced

Item type: skill
Key: hpo-phenotype-matcher
Source: github.com/a5c-ai/babysitter

github.com/a5c-ai/babysitter