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"

5 matching diseasesClear search ×

Hemimegalencephaly

Unilateral megalencephaly

ORPHA:99802

Isolated megalencephaly

ORPHA:2477

OBSOLETE: Isolated megalencephaly

OBSOLETE: Isolated macrencephaly

ORPHA:268920

Unilateral congenital megacalycosis

ORPHA:93176

Unilateral multicystic dysplastic kidney

Unilateral MCDK · Unilateral multicystic renal dysplasia

ORPHA:97363