AI for Rare Disease Diagnosis in Real World

Patient Inclusion Criteria: * Any age. Legal guardian co-signs consent for minors or individuals lacking legal capacity. * Diagnostically unresolved or suspected rare disease, with at least one prior complete clinical evaluation at a secondary-level or higher institution yielding no confirmed explanatory diagnosis. * First presentation to the enrolling institution for the current condition, with no prior records in the institutional HIS or outpatient system. * No prior genetic testing related to the current condition; no results or reports available. * Written informed consent provided voluntarily by patient or legal guardian, with commitment and ability to complete structured follow-up. Patient Exclusion Criteria: * Confirmed diagnosis (clinical, pathological, or molecular) explaining the primary symptoms. * Emergency presentation, critical illness, or any condition incompatible with trial participation. * Neither patient nor legally authorised proxy able to complete follow-up. * Concurrent enrollment in another interventional study with diagnostic accuracy or genetic testing yield as a primary endpoint. * Prior use of another AI system has already yielded a confirmed diagnosis for the current condition. Physician Inclusion Criteria * Licensed physician in internal medicine, neurology, pediatrics, general medicine, rare disease, or a related specialty. * ≥2 years of clinical practice; competent to manage rare disease patients; stratified into junior or senior tier. * Vo…