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 ×

Mitochondrial membrane protein-associated neurodegeneration

MPAN · NBIA due to C19orf12 mutation

ORPHA:289560

Beta-propeller protein-associated neurodegeneration

BPAN · NBIA5

ORPHA:329284

COASY protein-associated neurodegeneration

CoPAN · NBIA6

ORPHA:397725

Neurodegeneration with brain iron accumulation

NBIA

ORPHA:385

Pantothenate kinase-associated neurodegeneration

Hallervorden-Spatz syndrome · NBIA1

ORPHA:157850