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"

5 matching diseasesClear search ×

Genetic neurovascular malformation

ORPHA:371436

Genetic skin vascular disorder

ORPHA:183478

Genetic vascular anomaly

ORPHA:211240

Rare genetic vascular disease

ORPHA:233655

Rare genetic vascular tumor

ORPHA:459543