tooluniverse-rare-disease-diagnosis

SKILL.md

Systematic diagnosis support for rare diseases using phenotype matching, gene panel prioritization, and variant interpretation across Orphanet, OMIM, HPO, ClinVar, and structure-based analysis.

| OpenTargetsgetassociateddiseasesbytargetensemblId | ensemblID | ensemblId | | ClinVargetvariantbyid | variantid | id | | MyGenequerygenes | gene | q | | gnomADgetvariantfrequencies | variant | variantid |

| Core features | Always present in disease | High | | Variable features | Present in >50% | Medium | | Occasional features | Present in <50% | Low | | Age-specific | Onset-dependent | Context |

Provide differential diagnosis for patients with suspected rare diseases based on phenotype and genetic data. Matches symptoms to HPO terms, identifies candidate diseases from Orphanet/OMIM, prioritizes genes for testing, interprets variants of uncertain significance. Use when clinician asks about rare disease diagnosis, unexplained phenotypes, or genetic testing interpretation. Source: mims-harvard/tooluniverse.

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