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"

3 matching diseasesClear search ×

Mitochondrial membrane protein-associated neurodegeneration

MPAN · NBIA due to C19orf12 mutation

ORPHA:289560

Microscopic polyangiitis

MPA · Micropolyangiitis

ORPHA:727

Mixed phenotype acute leukemia

MPAL

ORPHA:530995