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"

19 matching diseasesClear search ×

Adult-onset cervical dystonia, DYT23 type

DYT23 · Dystonia 23

ORPHA:420492

Autosomal dominant focal dystonia, DYT25 type

DYT25 · Dystonia 25

ORPHA:329466

Blepharospasm-oromandibular dystonia syndrome

Meige dystonia · Meige syndrome

ORPHA:93964

Combined dystonia

Dystonia-plus syndrome

ORPHA:98203

Cranio-cervical dystonia with laryngeal and upper-limb involvement

DYT24 · Dystonia 24

ORPHA:420485

Dystonia 14

DYT14

ORPHA:101151

Dystonia 16

DYT16 · Early-onset dystonia parkinsonism

ORPHA:210571

Dystonia 28

DYT28 · KMT2B-related dystonia

ORPHA:589618

Early-onset generalized limb-onset dystonia

Dystonia musculorum deformans · EOTD

ORPHA:256

Isolated dystonia

Pure dystonia

ORPHA:156159

MEPAN syndrome

Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome · Autosomal recessive childhood-onset dystonia, DYT29 type

ORPHA:508093

Myoclonic dystonia 15

DYT15 · Myoclonus-dystonia type 15

ORPHA:210566

Myoclonus-dystonia syndrome

Alcohol-responsive dystonia · Hereditary essential myoclonus

ORPHA:36899

Paroxysmal dystonia

ORPHA:200037

Paroxysmal exertion-induced dyskinesia

DYT18 · Dystonia 18

ORPHA:98811

Psychogenic movement disorders

Psychogenic dystonia

ORPHA:71519

Rapid-onset dystonia-parkinsonism

DYT12 · Dystonia 12

ORPHA:71517

Rare dystonia

Rare dystonic disorder

ORPHA:68363

Rare genetic dystonia

Rare genetic dystonic disorder

ORPHA:391799