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 ×

Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

Autoimmune enteropathy type 1 · IPEX

ORPHA:37042

Intravascular papillary endothelial hyperplasia

IPEH · Vegetant intravascular hemangioendothelioma

ORPHA:673525