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"

9 matching diseasesClear search ×

OBSOLETE: Hereditary pediatric Behçet-like disease

OBSOLETE: Behçet-like disease due to HA20 · OBSOLETE: Behçet-like disease due to haploinsufficiency of A20

ORPHA:476102

Behçet disease

ORPHA:117

Early-onset autoinflammatory syndrome due to A20 haploinsufficiency

Early-onset AID due to HA20 · Early-onset autoinflammatory disorder due to HA20

ORPHA:674762

OBSOLETE: Adult neuronal ceroid lipofuscinosis

OBSOLETE: ANCL · OBSOLETE: Adult NCL

ORPHA:79262

OBSOLETE: Argyrophilic grain disease

OBSOLETE: Braak disease

ORPHA:97342

OBSOLETE: Binswanger disease

ORPHA:1249

OBSOLETE: CLN4A disease

ORPHA:228340

OBSOLETE: CLN9 disease

ORPHA:228357

OBSOLETE: Juvenile neuronal ceroid lipofuscinosis

OBSOLETE: Juvenile NCL · OBSOLETE: Juvenile CLN disease

ORPHA:79264