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"

8 matching diseasesClear search ×

X-linked spinocerebellar ataxia type 3

SCAX3 · X-linked ataxia-deafness syndrome

ORPHA:85297

Spinocerebellar ataxia type 4

SCA4

ORPHA:98765

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

Syringocystadenoma papilliferum

Papillary syringocystadenoma · Fistulous vegetative verrucous hydradenoma

ORPHA:840

X-linked spinocerebellar ataxia type 4

SCAX4 · X-linked ataxia-dementia syndrome

ORPHA:85292