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"

11 matching diseasesClear search ×

Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

CANVAS · Cerebellar ataxia with bilateral vestibulopathy syndrome

ORPHA:504476

Brachydactyly-nystagmus-cerebellar ataxia syndrome

Biemond syndrome

ORPHA:1246

Cerebellar ataxia with peripheral neuropathy

ORPHA:207028

Cerebellar ataxia-ectodermal dysplasia syndrome

ORPHA:1174

Cerebellar ataxia-hypogonadism syndrome

Gordon-Holmes syndrome · Luteinizing hormone-releasing hormone deficiency with ataxia

ORPHA:1173

Episodic ataxia type 4

PATX · Periodic vestibulocerebellar ataxia

ORPHA:79136

Idiopathic bilateral vestibulopathy

ORPHA:171684

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome

ORPHA:502423

Myoclonus-cerebellar ataxia-deafness syndrome

Myoclonus-cerebellar ataxia-hearing loss syndrome

ORPHA:2589

Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome

ORPHA:3390

Spinocerebellar ataxia type 7

Ataxia with pigmentary retinopathy · Cerebellar syndrome-pigmentary maculopathy syndrome

ORPHA:94147