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 ×

Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type

MAD deficiency, severe neonatal type · Glutaric aciduria type 2, severe neonatal type

ORPHA:394529

2-hydroxyglutaric aciduria

2-hydroxyglutaric acidemia

ORPHA:19

Barth syndrome

3-methylglutaconic aciduria type 2 · BTHS

ORPHA:111

Glutaric acidemia type 3

Glutaric aciduria type 3 · Glutaryl-CoA oxidase deficiency

ORPHA:35706

Glutaryl-CoA dehydrogenase deficiency

GA1 · GCDHD

ORPHA:25

HSD10 disease, neonatal type

2-methyl-3-hydroxybutyric aciduria, neonatal type · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type

ORPHA:391457

Multiple acyl-CoA dehydrogenase deficiency

Glutaric acidemia type 2 · Glutaric aciduria type 2

ORPHA:26791

Multiple acyl-CoA dehydrogenase deficiency, mild type

MAD deficiency, mild type · MADD, mild type

ORPHA:394532

Transient neonatal multiple acyl-CoA dehydrogenase deficiency

Transient neonatal MAD deficiency · Transient neonatal MADD

ORPHA:329942