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"

7 matching diseasesClear search ×

Primary dystonia, DYT6 type

DYT6 · Generalized cervical and upper-limb-onset dystonia

ORPHA:98806

Adult-onset cervical dystonia, DYT23 type

DYT23 · Dystonia 23

ORPHA:420492

Cranio-cervical dystonia with laryngeal and upper-limb involvement

DYT24 · Dystonia 24

ORPHA:420485

Early-onset generalized limb-onset dystonia

Dystonia musculorum deformans · EOTD

ORPHA:256

Generalized isolated dystonia

ORPHA:376724

MEPAN syndrome

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

ORPHA:508093

Primary dystonia, DYT13 type

DYT13 · Primary dystonia with mixed phenotype

ORPHA:98807