Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

8 matching diseasesClear search ×

Proteasome-associated autoinflammatory syndrome

ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome

ORPHA:324977

Autoinflammatory syndrome

ORPHA:93665

CANDLE syndrome

Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome

ORPHA:325004

Granulomatous autoinflammatory syndrome

ORPHA:324930

Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome

PLAAT3-related lipodystrophy syndrome

ORPHA:686999

NEMO deleted exon 5 autoinflammatory syndrome

NDAS · NEMO-NDAS

ORPHA:699605

Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome

ORPHA:294023

Pyogenic autoinflammatory syndrome

ORPHA:324927