Genetics, Syndromes & Rare DiseasesApr 2026
GeneReviews (NCBI / NIH)
Expert-authored, peer-reviewed disease descriptions for inherited conditions — diagnosis, management, and genetic counseling guidance.
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Genetics, Syndromes & Rare Diseases
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Genetics, Syndromes & Rare DiseasesApr 2026
GARD — Genetic and Rare Diseases (NIH)
NIH's free resource on rare diseases — easy-to-understand disease summaries with information specialist support in English and Spanish.
Genetics, Syndromes & Rare DiseasesApr 2026
NORD — National Organization for Rare Disorders
US organisation for rare diseases — disease reports, clinical guidelines, research updates, and resources on over 1,200 rare syndromes and conditions.
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.
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.
Genetics, Syndromes & Rare DiseasesApr 2026
FindZebra Diagnosis Assist Tool | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program
AI-assisted rare disease diagnosis tool using symptom matching to generate differential diagnoses for uncommon syndromes and genetic conditions in pediatric and neonatal patients.