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"

7 matching diseasesClear search ×

Isolated hereditary giant platelet disorder

Isolated inherited giant platelet disorder · Isolated inherited macrothrombocytopenia

ORPHA:220452

OBSOLETE: Inherited retinal disorder

OBSOLETE: Retinal dystrophy

ORPHA:71862

OBSOLETE: Isolated inherited retinal disorder

ORPHA:520817

OBSOLETE: Isolated progressive inherited retinal disorder

ORPHA:519306

OBSOLETE: Isolated stationary inherited retinal disorder

ORPHA:519319

Platelet-activating anti-platelet factor 4 disorder

Anti-platelet factor 4 disorder · Anti-PF4 disorder

ORPHA:698914

Quebec platelet disorder

Factor V Quebec

ORPHA:220436