A quantitative disorder-phenotype atlas of inherited metabolic disorders reveals shared symptom spaces and group-specific hotspots

Aggregator

17 Oct 2026 0 comments

CONCLUSIONS: This first-generation knowledgebase-level atlas quantifies reported disorder-level phenotype architecture rather than patient-level prevalence or natural history. It provides a scalable framework for phenotype standardization, diagnostic navigation, targeted curation, and future integration of age, variants, treatment, and real-world evidence.