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

Action myoclonus-renal failure syndrome

AMRF · Progressive myoclonus epilepsy type 4

ORPHA:163696

Ataxia-pancytopenia syndrome

ATXPC syndrome · SAMD9L-related ataxia-pancytopenia syndrome

ORPHA:2585

Myoclonus-cerebellar ataxia-deafness syndrome

Myoclonus-cerebellar ataxia-hearing loss syndrome

ORPHA:2589

Myoclonus-dystonia syndrome

Alcohol-responsive dystonia · Hereditary essential myoclonus

ORPHA:36899

Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

ATRUS syndrome

ORPHA:71289

Sialidosis type 1

Cherry-red spot-myoclonus syndrome · Lipomucopolysaccharidosis

ORPHA:812