Rare Diseases

 

 

 
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22q11.2 deletion syndrome
3-M syndrome
3MC syndrome - Michels syndrome
Achondroplasia - Update 2026
Acute adrenal insufficiency
Alkaptonuria
Allgrove syndrome
Alpha-mannosidosis
Alport syndrome
Alternating hemiplegia of childhood syndrome
Amniotic band syndrome
Amyotrophic lateral sclerosis - Update 2026
 Andersen disease
Angelman syndrome
Anti-NMDA-receptor encephalitis
Antiphospholipid antibody syndrome
Apert syndrome
Argininosuccinate Lyase Deficiency
Aromatic L-amino acid decarboxylase deficiency
Arrhythmogenic right ventricular dysplasia
Arthrogryposis multiplex congenita
Autism spectrum disorder 
Beals syndrome - Update 2025
Beckwith–Wiedemann syndrome

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