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 ×

Pantothenate kinase-associated neurodegeneration

Hallervorden-Spatz syndrome · NBIA1

ORPHA:157850

Atypical pantothenate kinase-associated neurodegeneration

NBIA1, atypical form · Neurodegeneration with brain iron accumulation type 1, atypical form

ORPHA:216873

Classic pantothenate kinase-associated neurodegeneration

NBIA1, classic form · Neurodegeneration with brain iron accumulation type 1, classic form

ORPHA:216866

Beta-propeller protein-associated neurodegeneration

BPAN · NBIA5

ORPHA:329284

COASY protein-associated neurodegeneration

CoPAN · NBIA6

ORPHA:397725

Mitochondrial membrane protein-associated neurodegeneration

MPAN · NBIA due to C19orf12 mutation

ORPHA:289560

Neurodegeneration with brain iron accumulation

NBIA

ORPHA:385