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"

10 matching diseasesClear search ×

Early-onset generalized limb-onset dystonia

Dystonia musculorum deformans · EOTD

ORPHA:256

Dystonia 16

DYT16 · Early-onset dystonia parkinsonism

ORPHA:210571

Primary dystonia, DYT13 type

DYT13 · Primary dystonia with mixed phenotype

ORPHA:98807

Primary dystonia, DYT17 type

ORPHA:370103

Primary dystonia, DYT2 type

DYT2

ORPHA:99657

Primary dystonia, DYT21 type

DYT21

ORPHA:306734

Primary dystonia, DYT27 type

ORPHA:464440

Primary dystonia, DYT4 type

DYT4 · Hereditary whispering dysphonia

ORPHA:98805

Primary dystonia, DYT6 type

DYT6 · Generalized cervical and upper-limb-onset dystonia

ORPHA:98806

Primary early-onset glaucoma

ORPHA:156005