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"

20 matching diseasesClear search ×

Primary dystonia, DYT2 type

DYT2

ORPHA:99657

Adult-onset cervical dystonia, DYT23 type

DYT23 · Dystonia 23

ORPHA:420492

Autosomal dominant focal dystonia, DYT25 type

DYT25 · Dystonia 25

ORPHA:329466

Cranio-cervical dystonia with laryngeal and upper-limb involvement

DYT24 · Dystonia 24

ORPHA:420485

Dystonia 28

DYT28 · KMT2B-related dystonia

ORPHA:589618

MEPAN syndrome

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

ORPHA:508093

Primary dystonia, DYT21 type

DYT21

ORPHA:306734

Primary dystonia, DYT27 type

ORPHA:464440

Autosomal dominant dopa-responsive dystonia

Autosomal dominant Segawa syndrome · DYT5a

ORPHA:98808

Autosomal recessive dopa-responsive dystonia

Autosomal recessive Segawa syndrome · DYT5b

ORPHA:101150

Dystonia 14

DYT14

ORPHA:101151

Dystonia 16

DYT16 · Early-onset dystonia parkinsonism

ORPHA:210571

Myoclonic dystonia 15

DYT15 · Myoclonus-dystonia type 15

ORPHA:210566

Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity

DYT9 · Episodic choreoathetosis/spasticity

ORPHA:53583

Paroxysmal exertion-induced dyskinesia

DYT18 · Dystonia 18

ORPHA:98811

Primary dystonia, DYT13 type

DYT13 · Primary dystonia with mixed phenotype

ORPHA:98807

Primary dystonia, DYT4 type

DYT4 · Hereditary whispering dysphonia

ORPHA:98805

Primary dystonia, DYT6 type

DYT6 · Generalized cervical and upper-limb-onset dystonia

ORPHA:98806

Rapid-onset dystonia-parkinsonism

DYT12 · Dystonia 12

ORPHA:71517

X-linked dystonia-parkinsonism

DYT3 · Lubag

ORPHA:53351