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"

58 matching diseasesClear search ×

Spinocerebellar ataxia type 48

ORPHA:631103

Spinocerebellar ataxia type 49

ORPHA:631106

Spinocerebellar ataxia type 5

SCA5

ORPHA:98766

Spinocerebellar ataxia type 7

Ataxia with pigmentary retinopathy · Cerebellar syndrome-pigmentary maculopathy syndrome

ORPHA:94147

Spinocerebellar ataxia type 8

SCA8

ORPHA:98760

Spinocerebellar ataxia with epilepsy

MSCAE · Mitochondrial spinocerebellar ataxia with epilepsy

ORPHA:254881

Sporadic adult-onset ataxia of unknown etiology

Idiopathic late-onset cerebellar ataxia · SAOA

ORPHA:247234

X-linked cerebellar ataxia

ORPHA:247765

X-linked non progressive cerebellar ataxia

ORPHA:314978

X-linked progressive cerebellar ataxia

ORPHA:1175