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"

56 matching diseasesClear search ×

Pyruvate dehydrogenase phosphatase deficiency

PDH phosphatase deficiency

ORPHA:79246

Recessive X-linked ichthyosis

RXLI · Steroid sulfatase deficiency

ORPHA:461

Saccharopinuria

Hyperlysinemia type II · Saccharopine dehydrogenase deficiency

ORPHA:3124

Sarcosinemia

Sarcosine dehydrogenase complex deficiency

ORPHA:3129

Short chain acyl-CoA dehydrogenase deficiency

ACADS deficiency · SCAD deficiency

ORPHA:26792

Steroid dehydrogenase deficiency-dental anomalies syndrome

Lyngstadaas syndrome

ORPHA:3196

Succinic semialdehyde dehydrogenase deficiency

4-hydroxybutyric aciduria · Gamma-hydroxybutyric aciduria

ORPHA:22

Xanthinuria type I

XDH deficiency · XO deficiency

ORPHA:93601