Tag: rare diseases

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Genetics, Syndromes & Rare DiseasesApr 2026

OMIM — Online Mendelian Inheritance in Man

Comprehensive, authoritative compendium of human genes and genetic disorders — essential for identifying syndromes and rare diseases in clinical paediatric practice.

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Genetics, Syndromes & Rare DiseasesApr 2026

Orphanet — Rare Diseases Portal

European portal for rare diseases and orphan drugs — disease descriptions, diagnostic criteria, clinical management guidelines, and directories of specialist centres.

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