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"

14 matching diseasesClear search ×

Primary hyperoxaluria type 1

Glycolic aciduria · Peroxisomal alanine-glyoxylate aminotransferase deficiency

ORPHA:93598

D-glyceric aciduria

D-glycerate kinase deficiency · D-glyceric acidemia

ORPHA:941

Fumaric aciduria

Fumarase deficiency

ORPHA:24

Glutaric acidemia type 3

Glutaric aciduria type 3 · Glutaryl-CoA oxidase deficiency

ORPHA:35706

Glutaryl-CoA dehydrogenase deficiency

GA1 · GCDHD

ORPHA:25

Isobutyryl-CoA dehydrogenase deficiency

Isobutyric aciduria

ORPHA:79159

Malonic aciduria

Malonyl-CoA decarboxylase deficiency · Malonic acidemia

ORPHA:943

Mevalonic aciduria

Complete mevalonate kinase deficiency · MVA

ORPHA:29

Multiple acyl-CoA dehydrogenase deficiency

Glutaric acidemia type 2 · Glutaric aciduria type 2

ORPHA:26791

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

HIBCH deficiency · Methacrylic aciduria

ORPHA:88639

Organic aciduria

ORPHA:289899

Primary hyperoxaluria type 2

D-glycerate dehydrogenase deficiency · L-glyceric aciduria

ORPHA:93599

Propionic acidemia

Ketotic hyperglycinemia · Propionic aciduria

ORPHA:35

Urocanic aciduria

Encephalopathy due to urocanase deficiency

ORPHA:210128