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"

9 matching diseasesClear search ×

D,L-2-hydroxyglutaric aciduria

Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia · Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria

ORPHA:356978

2-hydroxyglutaric aciduria

2-hydroxyglutaric acidemia

ORPHA:19

3-hydroxy-3-methylglutaric aciduria

3-hydroxy-3-methylglutaryl-CoA lyase deficiency · HMG-CoA lyase deficiency

ORPHA:20

Combined malonic and methylmalonic acidemia

CMAMMA · Combined malonic and methylmalonic aciduria

ORPHA:289504

D-2-hydroxyglutaric aciduria

D-2-HGA · D-2-hydroxyglutaric acidemia

ORPHA:79315

L-2-hydroxyglutaric aciduria

L-2-HGA · L-2-hydroxyglutaric acidemia

ORPHA:79314

Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

MC-HGA

ORPHA:99646

Multiple acyl-CoA dehydrogenase deficiency

Glutaric acidemia type 2 · Glutaric aciduria type 2

ORPHA:26791

Succinic semialdehyde dehydrogenase deficiency

4-hydroxybutyric aciduria · Gamma-hydroxybutyric aciduria

ORPHA:22