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"

11 matching diseasesClear search ×

Paroxysmal exertion-induced dyskinesia

DYT18 · Dystonia 18

ORPHA:98811

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

Primary dystonia, DYT13 type

DYT13 · Primary dystonia with mixed phenotype

ORPHA:98807

Primary dystonia, DYT2 type

DYT2

ORPHA:99657

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