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"

6 matching diseasesClear search ×

Neonatal antiphospholipid syndrome

Neonatal Hughes syndrome · Neonatal antiphospholipid antibody syndrome

ORPHA:398097

Antiphospholipid syndrome

Classic antiphospholipid syndrome · APLS

ORPHA:80

Catastrophic antiphospholipid syndrome

CAPS · Catastrophic APS

ORPHA:464343

Neonatal compartment syndrome

Neonatal Volkmann ischemic contracture syndrome · Congenital Volkmann ischemic contracture syndrome

ORPHA:641829

Neonatal Marfan syndrome

Neonatal MFS

ORPHA:284979

Wiedemann-Rautenstrauch syndrome

Neonatal progeroid syndrome

ORPHA:3455