Rare Disease Library

Nakajo-Nishimura syndrome

Amyotrophy-fat tissue anomaly syndrome · Secondary hypertrophic osteoperiostosis with pernio

22q11.2 deletion syndrome

22q11DS · CATCH 22

Autosomal anomaly syndrome

SHORT syndrome

Lipodystrophy-Rieger anomaly-diabetes syndrome · Rieger anomaly-partial lipodystrophy syndrome