Rare disease (Orphanet / 100k Genomes)

Layer 3 — Biologyin the Medical Genetics And Genomics subtree

~7000 rare-diseases (each <1/2000); collectively ~1 in 17. UK 100k Genomes 2018; Genomics-England. Diagnostic-odyssey reduction via WGS. ~50% solve-rate. Bridges to L5 health-policy.

Related concepts

Tree (graph-theoretic)

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