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 ×

OBSOLETE: Autosomal dominant focal dystonia, DYT7 type

OBSOLETE: Adult-onset focal torsion dystonia · OBSOLETE: Adult-onset idiopathic torsion dystonia

ORPHA:93963

Adult-onset cervical dystonia, DYT23 type

DYT23 · Dystonia 23

ORPHA:420492

Adult-onset dystonia-parkinsonism

Dystonia-parkinsonism, Paisan-Ruiz type · PARK14

ORPHA:199351

Early-onset generalized limb-onset dystonia

Dystonia musculorum deformans · EOTD

ORPHA:256

OBSOLETE: Adult-onset SAPHO syndrome

OBSOLETE: Adult-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome

ORPHA:324982

OBSOLETE: Cervical dystonia

ORPHA:93962

OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset

OBSOLETE: Glycogenosis due to acid maltase deficiency, adult onset · OBSOLETE: GSD type 2, adulte onset

ORPHA:308604

OBSOLETE: Laryngeal dyskinesia

OBSOLETE: Laryngeal dystonia · OBSOLETE: Spasmodic dysphonia

ORPHA:93961

OBSOLETE: Limb dystonia

ORPHA:93957

OBSOLETE: Mixed dystonia

ORPHA:71516

OBSOLETE: Truncal dystonia

ORPHA:93956