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 ×

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

ORPHA:404560

OBSOLETE: Melanoma-pancreatic cancer syndrome

ORPHA:51013

Adenoma of pancreas

Pancreatic adenoma

ORPHA:93292

CANOMAD syndrome

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

ORPHA:71279

Familial pancreatic carcinoma

Familial pancreatic cancer

ORPHA:1333

Melanoma and neural system tumor syndrome

Melanoma-astrocytoma syndrome

ORPHA:252206

Rare carcinoma of pancreas

Rare pancreatic carcinoma

ORPHA:217074