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"

165 matching diseasesClear search ×

Spinocerebellar ataxia type 37

SCA37 · Spinocerebellar ataxia with altered vertical eye movements

ORPHA:363710

Spinocerebellar ataxia type 38

SCA38

ORPHA:423296

Spinocerebellar ataxia type 4

SCA4

ORPHA:98765

Spinocerebellar ataxia type 40

SCA40

ORPHA:423275

Spinocerebellar ataxia type 41

SCA41

ORPHA:458798

Spinocerebellar ataxia type 42

SCA42

ORPHA:458803

Spinocerebellar ataxia type 43

SCA43

ORPHA:497764

Spinocerebellar ataxia type 44

ORPHA:631095

Spinocerebellar ataxia type 45

SCA45

ORPHA:589527

Spinocerebellar ataxia type 46

SCA46

ORPHA:589522

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 axonal neuropathy type 1

SCAN1

ORPHA:94124

Spinocerebellar ataxia with axonal neuropathy type 2

AOA2 · Ataxia-oculomotor apraxia type 2

ORPHA:64753

Spinocerebellar ataxia with epilepsy

MSCAE · Mitochondrial spinocerebellar ataxia with epilepsy

ORPHA:254881

X-linked spinocerebellar ataxia type 3

SCAX3 · X-linked ataxia-deafness syndrome

ORPHA:85297

X-linked spinocerebellar ataxia type 4

SCAX4 · X-linked ataxia-dementia syndrome

ORPHA:85292

Young adult-onset distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy type 5 · Young adult-onset dHMN

ORPHA:314485