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"

9 matching diseasesClear search ×

Adult-onset dystonia-parkinsonism

Dystonia-parkinsonism, Paisan-Ruiz type · PARK14

ORPHA:199351

ATP13A2-related parkinsonism

ORPHA:514980

Cyanide-induced parkinsonism-dystonia

ORPHA:306692

Dystonia 16

DYT16 · Early-onset dystonia parkinsonism

ORPHA:210571

Dystonia 28

DYT28 · KMT2B-related dystonia

ORPHA:589618

Infantile dystonia-parkinsonism

Dopamine transporter deficiency syndrome · IPD

ORPHA:238455

Mitochondrial DNA-related dystonia

Maternally-inherited mitochondrial dystonia · mtDNA-related dystonia

ORPHA:254851

Rapid-onset dystonia-parkinsonism

DYT12 · Dystonia 12

ORPHA:71517

X-linked dystonia-parkinsonism

DYT3 · Lubag

ORPHA:53351