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"

4 matching diseasesClear search ×

CINCA syndrome

IOMID syndrome · Infantile-onset multisystem inflammatory disease

ORPHA:1451

Brain inflammatory disease

ORPHA:102005

Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome

IL10-related early-onset IBD · IL10-related early-onset inflammatory bowel disease

ORPHA:238569

Rare inflammatory bowel disease

ORPHA:104012