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"

7 matching diseasesClear search ×

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

ORPHA:1183

Cushing syndrome due to ectopic ACTH secretion

Adrenocorticotropic hormone secretion syndrome · Ectopic ACTH secreting tumor

ORPHA:99889

Myoclonus-cerebellar ataxia-deafness syndrome

Myoclonus-cerebellar ataxia-hearing loss syndrome

ORPHA:2589

Myoclonus-dystonia syndrome

Alcohol-responsive dystonia · Hereditary essential myoclonus

ORPHA:36899

Paraneoplastic cerebellar degeneration

PCD · Subacute cerebellar degeneration

ORPHA:623626

Paraneoplastic neurologic syndrome

PNS

ORPHA:36388

Spastic ataxia-corneal dystrophy syndrome

Bedouin spastic ataxia syndrome · Mousa-Al Din-Al Nassar syndrome

ORPHA:2572