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"

3 matching diseasesClear search ×

CANOMAD syndrome

Chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome · Chronic sensory ataxic neuropathy with anti-disialosyl IgM antibodies

ORPHA:71279

Acute sensory ataxic neuropathy

ASAN · Acute sensory ataxic GBS

ORPHA:231466

PrP systemic amyloidosis

Prion protein systemic amyloidosis · Chronic diarrhea with hereditary sensory and autonomic neuropathy

ORPHA:397606