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 ×

Rippling muscle disease with myasthenia gravis

Acquired rippling muscle disease · Generalized myasthenia gravis

ORPHA:206575

Acquired skeletal muscle disease

ORPHA:206638

Acquired von Willebrand syndrome

Acquired von Willebrand disease

ORPHA:99147

Alpha-thalassemia-myelodysplastic syndrome

Acquired HbH disease · Acquired hemoglobin H disease

ORPHA:231401

OBSOLETE: Rare acquired eye disease

ORPHA:101949

Other acquired skin disease

ORPHA:90077

Rippling muscle disease

ORPHA:97238