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 ×

Isolated pulmonary artery sling

PAS · Isolated anomalous left pulmonary artery

ORPHA:658574

Logopenic progressive aphasia

LPA · Logopenic primary progressive aphasia

ORPHA:250831

Low phospholipid-associated cholelithiasis

LPAC · ABCB4-related cholelithiasis

ORPHA:69663

Calpain-3-related limb-girdle muscular dystrophy D4

LGMD1I · Limb-girdle muscular dystrophy type D4

ORPHA:565909

Calpain-3-related limb-girdle muscular dystrophy R1

LGMD2A · Limb-girdle muscular dystrophy due to calpain deficiency

ORPHA:267

Qualitative or quantitative defects of calpain

ORPHA:207104