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 ×

Autosomal recessive axonal neuropathy with neuromyotonia

ARAN-NM · ARCMT2-NM

ORPHA:324442

Nemaline myopathy

NEM · NM

ORPHA:607