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 ×

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

Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity

DYT9 · Episodic choreoathetosis/spasticity

ORPHA:53583

Primary dystonia, DYT2 type

DYT2

ORPHA:99657

Primary dystonia, DYT21 type

DYT21

ORPHA:306734

Primary dystonia, DYT4 type

DYT4 · Hereditary whispering dysphonia

ORPHA:98805

Primary dystonia, DYT6 type

DYT6 · Generalized cervical and upper-limb-onset dystonia

ORPHA:98806

X-linked dystonia-parkinsonism

DYT3 · Lubag

ORPHA:53351