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"

53 matching diseasesClear search ×

Spinocerebellar ataxia type 8

SCA8

ORPHA:98760

Spinocerebellar ataxia with epilepsy

MSCAE · Mitochondrial spinocerebellar ataxia with epilepsy

ORPHA:254881

Spinocerebellar ataxia-dysmorphism syndrome

ORPHA:1185

Spinocerebellar degeneration-corneal dystrophy syndrome

Der Kaloustian-Jarudi-Khoury syndrome

ORPHA:3177

X-linked spinocerebellar ataxia type 3

SCAX3 · X-linked ataxia-deafness syndrome

ORPHA:85297