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"

12 matching diseasesClear search ×

Familial paroxysmal ataxia

Episodic ataxia type 2

ORPHA:97

Autosomal spastic paraplegia type 58

SPAX2 · Autosomal spastic ataxia type 2

ORPHA:397946

Episodic ataxia type 1

Episodic ataxia with myokymia

ORPHA:37612

Episodic ataxia type 3

Episodic ataxia-vertigo-tinnitus-myokymia syndrome

ORPHA:79135

Episodic ataxia type 4

PATX · Periodic vestibulocerebellar ataxia

ORPHA:79136

Episodic ataxia type 5

ORPHA:211067

Episodic ataxia type 6

ORPHA:209967

Episodic ataxia type 7

ORPHA:209970

Episodic ataxia with slurred speech

Episodic ataxia type 8

ORPHA:401953

Hereditary episodic ataxia

ORPHA:211062

Pyruvate carboxylase deficiency

Ataxia with lactic acidosis type 2 · Ataxia with lactic acidosis type II

ORPHA:3008

Spinocerebellar ataxia with axonal neuropathy type 2

AOA2 · Ataxia-oculomotor apraxia type 2

ORPHA:64753