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 ×

Autosomal dominant dopa-responsive dystonia

Autosomal dominant Segawa syndrome · DYT5a

ORPHA:98808

Autosomal recessive dopa-responsive dystonia

Autosomal recessive Segawa syndrome · DYT5b

ORPHA:101150

Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity

DYT9 · Episodic choreoathetosis/spasticity

ORPHA:53583

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

X-linked dystonia-parkinsonism

DYT3 · Lubag

ORPHA:53351