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 ×

Spinal arteriovenous metameric syndrome

Cutaneomeningospinal angiomatosis · SAMS 1-31

ORPHA:53721

Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome

MLT · Cutaneovisceral angiomatosis-thrombocytopenia syndrome

ORPHA:464321