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 ×

Mandibuloacral dysplasia with type A lipodystrophy

MADA

ORPHA:90153

Mandibuloacral dysplasia associated to MTX2

Mandibuloacral dysplasia progeroid syndrome · MADaM

ORPHA:647667

Isolated micronodular adrenocortical disease

i-MAD

ORPHA:647782

Mandibuloacral dysplasia

MAD

ORPHA:2457

Multiple acyl-CoA dehydrogenase deficiency

Glutaric acidemia type 2 · Glutaric aciduria type 2

ORPHA:26791