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"

10 matching diseasesClear search ×

D-glyceric aciduria

D-glycerate kinase deficiency · D-glyceric acidemia

ORPHA:941

D-2-hydroxyglutaric aciduria

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

ORPHA:79315

Glutaric acidemia type 3

Glutaric aciduria type 3 · Glutaryl-CoA oxidase deficiency

ORPHA:35706

Glutaryl-CoA dehydrogenase deficiency

GA1 · GCDHD

ORPHA:25

Isovaleric acidemia

Isovaleric acid CoA dehydrogenase deficiency

ORPHA:33

Malonic aciduria

Malonyl-CoA decarboxylase deficiency · Malonic acidemia

ORPHA:943

Multiple acyl-CoA dehydrogenase deficiency

Glutaric acidemia type 2 · Glutaric aciduria type 2

ORPHA:26791

Primary hyperoxaluria type 1

Glycolic aciduria · Peroxisomal alanine-glyoxylate aminotransferase deficiency

ORPHA:93598

Primary hyperoxaluria type 2

D-glycerate dehydrogenase deficiency · L-glyceric aciduria

ORPHA:93599

Succinic acidemia

ORPHA:936