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"

2 matching diseasesClear search ×

Episodic ataxia type 3

Episodic ataxia-vertigo-tinnitus-myokymia syndrome

ORPHA:79135

Episodic ataxia type 1

Episodic ataxia with myokymia

ORPHA:37612