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 ×

Antiphospholipid syndrome

Classic antiphospholipid syndrome · APLS

ORPHA:80

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

ORPHA:81

Catastrophic antiphospholipid syndrome

CAPS · Catastrophic APS

ORPHA:464343

Classic progressive supranuclear palsy syndrome

Steele-Richardson-Olszewski disease · Richardson syndrome

ORPHA:240071

Classic stiff person syndrome

Classic SPS · Classic stiff man syndrome

ORPHA:443192

Isolated Joubert syndrome

CPD IV · Cerebelloparenchymal disorder IV

ORPHA:475

Neonatal antiphospholipid syndrome

Neonatal Hughes syndrome · Neonatal antiphospholipid antibody syndrome

ORPHA:398097

Pfeiffer syndrome type 1

Classic Pfeiffer syndrome

ORPHA:93258