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 ×

McLeod neuroacanthocytosis syndrome

MLS · X-linked McLeod syndrome

ORPHA:59306

Microphthalmia with linear skin defects syndrome

MCOPS7 · MIDAS syndrome

ORPHA:2556